Basic information Region (hg38): X:101391011-101412297
Links ENSG00000257529 NCBI:100529097 HGNC:48349 GenCC jax Sfari GnomAD Pubmed ClinVar Phenotypes GenCC Source: genCC
No genCC data.
ClinVar This is a list of variants' phenotypes submitted to ClinVar
Angiokeratoma corporis diffusum (701 variants) not provided (383 variants) Cardiovascular phenotype (109 variants) not specified (88 variants) Migalastat response (46 variants) Cardiomyopathy (21 variants) GLA-related condition (12 variants) Hypertrophic cardiomyopathy (9 variants) Fabry disease, cardiac variant (7 variants) Primary familial hypertrophic cardiomyopathy (6 variants) - (3 variants) Angiokeratoma corporis diffusum;Hypertrophic cardiomyopathy (3 variants) Hypertrophic cardiomyopathy 1 (2 variants) Intellectual disability, X-linked, syndromic, Bain type (1 variants) Stroke (1 variants) Nephrotic syndrome (1 variants) Sudden unexplained death (1 variants) Variants pathogenicity by type Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPL36A-HNRNPH2 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source
variants.
Warning: slight differences between displayed counts and the number of variants in
ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our
variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign
variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum synonymous 1 1 missense 0 nonsense 0 start loss 0 frameshift 0 inframe indel 0 splice donor/acceptor (+/-2bp) 0 splice region ?
0 non coding ?
238 188 262 175 31 894 Total 238 188 262 175 32
Highest pathogenic variant AF is 0.00000894
Variants in RPL36A-HNRNPH2 This is a list of pathogenic ClinVar variants found in the RPL36A-HNRNPH2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position Type Phenotype Significance ClinVar X-101391028-T-A not specified Uncertain significance (Jan 30, 2024) 3156079 X-101391167-A-G GLA-related disorder Likely benign (Apr 04, 2022) 3048977 X-101391195-C-T GLA-related disorder Likely benign (Oct 31, 2023) 3040732 X-101391216-G-A GLA-related disorder Likely benign (Apr 03, 2023) 3031516 X-101391265-G-A GLA-related disorder Likely benign (Nov 09, 2022) 3050211 X-101391786-C-T Benign (Mar 29, 2018) 708163 X-101397534-C-T Benign (Jun 26, 2018) 1178497 X-101397549-C-T Likely benign (Jul 27, 2018) 1202191 X-101397565-G-GC Benign (Jun 16, 2018) 1293345 X-101397655-C-T Benign (Jun 14, 2018) 1241572 X-101397714-T-C GLA-related disorder Likely benign (May 18, 2023) 3030728 X-101397753-A-C GLA-related disorder Likely benign (Jan 27, 2023) 3048387 X-101397760-T-C Likely benign (Aug 15, 2020) 1187221 X-101397776-C-T Benign (Mar 03, 2015) 1268269 X-101397801-TAAACATTTTAAA-T Uncertain significance (Dec 29, 2022) 2432132 X-101397809-T-C Fabry disease Likely benign (Dec 31, 2022) 558790 X-101397809-TTAAAG-T Cardiovascular phenotype Uncertain significance (Sep 01, 2022) 1768801 X-101397811-AAAGT-A Fabry disease Pathogenic (Jul 01, 2003) 10773 X-101397813-AG-A Fabry disease Likely pathogenic (Jul 15, 2021) 451478 X-101397819-TCTTTTAATGACATCTGCATTGTATTTTCTAGCTGAAGCAAAACAGTGCCTGTGGGATTTATGTGACTTCTTAACCTTGAAGTCCATTCATAGAACCCTAGCTTCCTTTTCACAGGGAGGAGCTGTGTGATGAAGCAGGCAGGATTACAGGCCACTCCTTTACCCAGGGAAGCAACTGCGATGGTATAAGAGCGAGGTCCACCAATCTCCTGCCGGTTTATCATAGCTACAGCCCAGGCTAAGCCTGAGAGAGGTCGTTCCCACACTTCAAAGTTGTCTCCCTGAAAAACCAAGAAAGTGTGGTTGCTTAGCAACTAGTGATAAGTGGCCCTGTTAGTTTGGCATTCATTCTTAATGTCAGAACTATCAAGCACTTGTAGGAAAAATTAAAATGATCCTGTAGCATTATTTTGGAAATAAAGTAATGTTTCTAGCAAGAAGCTTTATTACTGATAGTAACATCAAGAGCAAGGGAAAAAAATAGATTTAGGCCCAAGACAAAGTTGGTATTGGGTATATAAAGCCATCTTAAAATATATACTCTTATTTACCTGTCTAAGCTGGTACCCTTGCTTGCCCAAGGGGTCCTGATTGATGGCAATTACGTCCTTATCCTGAAGGAGAGCTTTGGCTTGAGGGCTGATGTGTCGGAGGTCATTAGACATGAATAAAGGAGCAGCCATGATAGCCCAGAGGGCCATCTGAGTTACTTGCTGATTCCAGCTGAGGCCAAAGTTGCCAATCACTAACTGAGAAAAAGAATGAAATAATTCAAACAAGAGAGGAGGAAACATTCTTAAAGTTACCTAGATGACCCATATGGAGAAACCACTTTCCACAGCATCCTGCTCTAAGTACTCTCACATAAAGCCTCCTCCCAGGAACTTTACCTGTATTTACCTTGAATGTCAAAATAGGAAACAAGCCTACCGCAGGGTCTTGAACAAGGAGGGCTCAAGTTTTTACCATATCTGGGTCATTCCAACCCCCTGGTCCAGCAACATCAACAATTCTCTCCTGGTTAAAAGATGTCCAGTCCAAGATACTCTTTATACTTTTCCAGGAATCATCAATGTCAGCAAAATTTCGCCAGTGATTGCAGTACTGTCGGATTTCTGTATAATTGGGCTGTGAAAACAGATATGACTCTTCTGTTTACTTTCTACTAACATCCTTGTGAGATGAAAACAGTTTAAAGGAGGCACTTGTAGCCTTCTCTTGAGTTTACAGATTGAACGTCTCCATAAGGAGGTCTAAACCCTTATAATGAATTTTCACTGTAAGAAGTTTGCTTCAGAAGTAGGCCATATAACTTGAAATCCCTTAAAGTTAATTTACTTCTATAATCAGAACTAAAATGGTCTTAGTAAAATTAAAAGCTGCAAAATTACATAGGACTCCATCAAGTATTAAGAAAACTTAAATCCCAGGCATATAGTTTGTTAATGGAATAAAAAGTTTGTAGAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATCTGAGGTCAGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCATCTCTACTAAAAATACAAAAATTAGCCAGATGTGGTAGCGCACGCCTATAATCCCAGCTACTGGGAGGCTGAGGCAAGAGAATCGCTTAAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGTGACAGTGAGACTCTGTCGCAAAAAAAAAGTTTGTAGATAGGCAGGTGGGATATCAGGTTTAAGATGTTGAGAAAAAAGACTATTTTGCAGAGATAATGAGGGAATAATAGGGATTCATTCCATAAATAACTATTCAACACTTAACCATATGCGAGAGATACAGTCAAAGTCAGACAAGGTCCCTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTAAAAATCTTTGGGGAAGAACTGTTCTAGGCAGAAAAAAAGCAAGTGTAAAGGCCCTGGGGCAGCAATAGGCTTGCAGTGTTGAGGGACAGAAAGAAAACCAGTGTAGCCAGGGAAAGAGCCATGACCCCTTGGACTTTGGGGAGGCAGGCAAGGGCTGGATCAGTGCAGTTTGGTTTCATTCCAAGTGCAATTGGAAGCGAGTTAAGGGTTTTAAGCAGGGAACTGATGATGACATTTATATTTTTTATAACTCTGTTAAGTCTCAGGGTTTTTTTCTTTAAAAAAAAAACTGATATTTACATTTTAATATGATAACTCTAGTGCTGCTTGGAAAATAGATGGGGGTTGAGACAGAGTGGAAGCAGAGAGATCAGGTGGTCCCAGCAGTCTGGTTGAGAGCCGATAGTAGCTTGGAAGGCCAGGGTGCATGTAGTGAAGATGGAAGGAAGTGGGCTGATTCAGGAGATATTTTAGAGATACTGGTGGAAGGACTGTTGATAGACAGGACATGAATGGTGAAATAAAGGGGAAGACACAAGGATGACTTTCCAGGTGATGGTAGCTTAGGCTATAATTACAGCAGTGGGGATGGTGAGAAGTGGTTGGAACCTGGGAGAGATGGTAGGATGATAGTAAGTAACGTTGGACTTTGAAGGAGACCTTGGTTTCCTTTGTTGTCAAGTTCTATCTATCAGTACAGTTCTATTGGATTCTGGGCTCACTATCTCACCTTTTGAAAGGGCCACATATAAAGAGGCCACTCACAGGAGTACACAATGCTTCTGCCAGTCCTATTCAGGGCCAAGGACATGTGCTTATAACCTGTATGAGAAAACAATGGGTAAAATAAGGGAAAGAAATGAATTTCCAGCTGGGGCTATATATATAGTTATTTTATTTTATTTTATTTTAATTTTTTGAGATGGGGTTCAGTCTGTCATCCAGGGTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGTTTCCCAGGTTCAAGTGACTCTTCTGTCTCAGCTTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCAAAGTCAGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCACCATGTTGGCCAGGGTGGTCTCGAACTCCTGACCTCAAGTAATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCATCATGCCCAGCTGGGGCTGTATATTTTAAGAAGAGGCTACCTGGAAGGTTCATGTTTAAACTAGCAGCAGGGACAGGCAGTTGCTCTGTGCTTAAATTGTGTAAAGTACCTCCCAGACTGCTGGGATTGTTCTGAGGAAGTAGTGCAGAGATGGTGTGTATATTGAGGAAAGGCAGGAATGAAGATGCTTCTTTCTCTGTGACCGATTGACAACCTGGACTCCCCTAAATGATGTTATAGAGAGTTACAATTACTAATTAACTCTTAGAGCCCTCTTGAATTATAAGTGCACAATATTAGCTATGGTTAGGTATGCATGGATTTTACATGAATTAATTAATTAATTAATGAACTGAAAGAGAAGAGATGGGAGCTCTGGCACATGGAGAATAATTATTTCCAGTATTGTGACAGGGTATTTAAAATTCTGAAGATTGGTTCTTTGGCTCAGCTACCATGGCCTCAAAGTTCTTTCCTTTGTGGCTAAATCTCTGGAATGAAACATTACCATCTGCCAAATTTTCCAAACTGTCACAGTAACAACCATCAAATTTTAGCAGATCTACTCCCCAGTCAGCAAAGGTCTGGGCATCAATGTCGTAGTATCCAAAACTCCCAGGGAAGCCTGCGCAGGTTTTATTTCCAACATCTGCATAAATCCCTAGCTTCAGTCCTTTGCTGTGAACCTGAAATGAGAGGGAGGAAAAGAGTCACCATTGTAGAAGCACAATCGTGAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAGATTTACCTTGACAAAGACTCTTCTTGACCAAACTTTAGTTAGACTTCTCTGATGAGCCTTCTTTTCGACTAGACCTCCACCTTGGCTTCCTATGTCTGTCCTAGCAAGACCTCTTAGCAAGAATCCTGCTAAGTCAATACTGCCACCATTGATATCTGATCAATTTCCCTCATCCCCCACCCTTCTTGTTTAAGTACATGAAGCTTTAGCAAGAAGCTCCCTACC-T Fabry disease Pathogenic (Jun 05, 1990) 10760 X-101397820-CTT-C Fabry disease Conflicting classifications of pathogenicity (Oct 28, 2019) 10772 X-101397820-CTTTTAATGACATCTGCATTGTATTTTCTAGCTGAAGCAAAACAGTGCCTGTGGGATTTATGTGACTTCTTAACCTTGAAGTCCATTCATAGAACCCTAGCTTCCTTTTCACAGGGAGGAGCTGTGTGATGAAGCAGGCAGGATTACAGGCCACTCCTTTACCCAGGGAAGCAACTGCGATGGTATAAGAGCGAGGTCCACCAATCTCCTGCCGGTTTATCATAGCTACAGCCCAGGCTAAGCCTGAGAGAGGTCGTTCCCACACTTCAAAGTTGTCTCCCTGAAAAACCAAGAAAGTGTGGTTGCTTAGCAACTAGTGATAAGTGGCCCTGTTAGTTTGGCATTCATTCTTAATGTCAGAACTATCAAGCACTTGTAGGAAAAATTAAAATGATCCTGTAGCATTATTTTGGAAATAAAGTAATGTTTCTAGCAAGAAGCTTTATTACTGATAGTAACATCAAGAGCAAGGGAAAAAAATAGATTTAGGCCCAAGACAAAGTTGGTATTGGGTATATAAAGCCATCTTAAAATATATACTCTTATTTACCTGTCTAAGCTGGTACCCTTGCTTGCCCAAGGGGTCCTGATTGATGGCAATTACGTCCTTATCCTGAAGGAGAGCTTTGGCTTGAGGGCTGATGTGTCGGAGGTCATTAGACATGAATAAAGGAGCAGCCATGATAGCCCAGAGGGCCATCTGAGTTACTTGCTGATTCCAGCTGAGGCCAAAGTTGCCAATCACTAACTGAGAAAAAGAATGAAATAATTCAAACAAGAGAGGAGGAAACATTCTTAAAGTTACCTAGATGACCCATATGGAGAAACCACTTTCCACAGCATCCTGCTCTAAGTACTCTCACATAAAGCCTCCTCCCAGGAACTTTACCTGTATTTACCTTGAATGTCAAAATAGGAAACAAGCCTACCGCAGGGTCTTGAACAAGGAGGGCTCAAGTTTTTACCATATCTGGGTCATTCCAACCCCCTGGTCCAGCAACATCAACAATTCTCTCCTGGTTAAAAGATGTCCAGTCCAAGATACTCTTTATACTTTTCCAGGAATCATCAATGTCAGCAAAATTTCGCCAGTGATTGCAGTACTGTCGGATTTCTGTATAATTGGGCTGTGAAAACAGATATGACTCTTCTGTTTACTTTCTACTAACATCCTTGTGAGATGAAAACAGTTTAAAGGAGGCACTTGTAGCCTTCTCTTGAGTTTACAGATTGAACGTCTCCATAAGGAGGTCTAAACCCTTATAATGAATTTTCACTGTAAGAAGTTTGCTTCAGAAGTAGGCCATATAACTTGAAATCCCTTAAAGTTAATTTACTTCTATAATCAGAACTAAAATGGTCTTAGTAAAATTAAAAGCTGCAAAATTACATAGGACTCCATCAAGTATTAAGAAAACTTAAATCCCAGGCATATAGTTTGTTAATGGAATAAAAAGTTTGTAGAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATCTGAGGTCAGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCATCTCTACTAAAAATACAAAAATTAGCCAGATGTGGTAGCGCACGCCTATAATCCCAGCTACTGGGAGGCTGAGGCAAGAGAATCGCTTAAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGTGACAGTGAGACTCTGTCGCAAAAAAAAAGTTTGTAGATAGGCAGGTGGGATATCAGGTTTAAGATGTTGAGAAAAAAGACTATTTTGCAGAGATAATGAGGGAATAATAGGGATTCATTCCATAAATAACTATTCAACACTTAACCATATGCGAGAGATACAGTCAAAGTCAGACAAGGTCCCTGCCCTCATGAAACTTACACTCTAGTGGGGAGACATGGTAACAAGTCAACAAATACTTCCAAATAGTGTGGAGCTCTGAGAAGAAAATTAAACAGGTTAATGTGATGAAGAATGAATGGACAGAGGGCTATTTTAAAGTAGTTAGAGAAGAACTGTCTGCATATGTGGCGTTTGGTCTGCGACTTCAATGTTAAGGAGCCCGGCCCTTTAAAAATCTTTGGGGAAGAACTGTTCTAGGCAGAAAAAAAGCAAGTGTAAAGGCCCTGGGGCAGCAATAGGCTTGCAGTGTTGAGGGACAGAAAGAAAACCAGTGTAGCCAGGGAAAGAGCCATGACCCCTTGGACTTTGGGGAGGCAGGCAAGGGCTGGATCAGTGCAGTTTGGTTTCATTCCAAGTGCAATTGGAAGCGAGTTAAGGGTTTTAAGCAGGGAACTGATGATGACATTTATATTTTTTATAACTCTGTTAAGTCTCAGGGTTTTTTTCTTTAAAAAAAAAACTGATATTTACATTTTAATATGATAACTCTAGTGCTGCTTGGAAAATAGATGGGGGTTGAGACAGAGTGGAAGCAGAGAGATCAGGTGGTCCCAGCAGTCTGGTTGAGAGCCGATAGTAGCTTGGAAGGCCAGGGTGCATGTAGTGAAGATGGAAGGAAGTGGGCTGATTCAGGAGATATTTTAGAGATACTGGTGGAAGGACTGTTGATAGACAGGACATGAATGGTGAAATAAAGGGGAAGACACAAGGATGACTTTCCAGGTGATGGTAGCTTAGGCTATAATTACAGCAGTGGGGATGGTGAGAAGTGGTTGGAACCTGGGAGAGATGGTAGGATGATAGTAAGTAACGTTGGACTTTGAAGGAGACCTTGGTTTCCTTTGTTGTCAAGTTCTATCTATCAGTACAGTTCTATTGGATTCTGGGCTCACTATCTCACCTTTTGAAAGGGCCACATATAAAGAGGCCACTCACAGGAGTACACAATGCTTCTGCCAGTCCTATTCAGGGCCAAGGACATGTGCTTATAACCTGTATGAGAAAACAATGGGTAAAATAAGGGAAAGAAATGAATTTCCAGCTGGGGCTATATATATAGTTATTTTATTTTATTTTATTTTAATTTTTTGAGATGGGGTTCAGTCTGTCATCCAGGGTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCTGTTTCCCAGGTTCAAGTGACTCTTCTGTCTCAGCTTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCAAAGTCAGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCACCATGTTGGCCAGGGTGGTCTCGAACTCCTGACCTCAAGTAATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCATCATGCCCAGCTGGGGCTGTATATTTTAAGAAGAGGCTACCTGGAAGGTTCATGTTTAAACTAGCAGCAGGGACAGGCAGTTGCTCTGTGCTTAAATTGTGTAAAGTACCTCCCAGACTGCTGGGATTGTTCTGAGGAAGTAGTGCAGAGATGGTGTGTATATTGAGGAAAGGCAGGAATGAAGATGCTTCTTTCTCTGTGACCGATTGACAACCTGGACTCCCCTAAATGATGTTATAGAGAGTTACAATTACTAATTAACTCTTAGAGCCCTCTTGAATTATAAGTGCACAATATTAGCTATGGTTAGGTATGCATGGATTTTACATGAATTAATTAATTAATTAATGAACTGAAAGAGAAGAGATGGGAGCTCTGGCACATGGAGAATAATTATTTCCAGTATTGTGACAGGGTATTTAAAATTCTGAAGATTGGTTCTTTGGCTCAGCTACCATGGCCTCAAAGTTCTTTCCTTTGTGGCTAAATCTCTGGAATGAAACATTACCATCTGCCAAATTTTCCAAACTGTCACAGTAACAACCATCAAATTTTAGCAGATCTACTCCCCAGTCAGCAAAGGTCTGGGCATCAATGTCGTAGTATCCAAAACTCCCAGGGAAGCCTGCGCAGGTTTTATTTCCAACATCTGCATAAATCCCTAGCTTCAGTCCTTTGCTGTGAACCTGAAATGAGAGGGAGGAAAAGAGTCACCATTGTAGAAGCACAATCGTGAGGTAGCAGAAAGAGAGAACCATTCCAGGCTGGGGGAAGAGACAAGGTTACTTCACCAGGTATTGGGGGCTTTTCCCCACAAACCCCCAAAATCATCCAGATGAGTTTGTTGGAAGACAAAGAATAAATCCCCCAGTTCTGCTGAGCTAGTTCAAACTAGGCATGTGAGCTATAGCCCAGAACTGAGGAGAAAGCTAGCAGCCATGCTAATCTTCCTGATGGGATCCTGAAAATTACCTTTTGAGGGAAATGATAGATTTACCTTGACAAAGACTCTTCTTGACCAAACTTTAGTTAGACTTCTCTGATGAGCCTTCTTTTCGACTAGACCTCCACCTTGGCTTCCTATGTCTGTCCTAGCAAGACCTCTTAGCAAGAATCCTGCTAAGTCAATACTGCCACCATTGATATCTGATCAATTTCCCTCATCCCCCACCCTTCTTGTTTAAGTACATGAAGCTTTAGCAAGAAGCTCCCTACCCT-C Fabry disease Pathogenic (Sep 16, 2020) 982018 X-101397828-G-C Fabry disease Uncertain significance (Jan 03, 2022) 2072281 X-101397830-C-T Fabry disease Uncertain significance (Jan 03, 2022) 2072282 X-101397833-C-T Fabry disease Likely benign (Aug 15, 2023) 1157680
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GnomAD Source: gnomAD
Gene Type Bio Type Transcript Coding Exons Length RPL36A-HNRNPH2 protein_coding protein_coding ENST00000409170 5 21287
pLI Probability pRec Probability Individuals with Individuals with Individuals with Defined p 0.364 0.590 0 0 0 0 0.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript Missense 0.951 28 46.2 0.606 0.00000322 842 Missense in Polyphen 0 2.9267 0 96 Synonymous -0.579 20 17.0 1.18 0.00000118 229 Loss of Function 1.57 1 4.67 0.214 2.94e-7 93
LoF frequencies by population Ethnicity Sum of pLOFs p African & African-American 0.00 0.00 Ashkenazi Jewish 0.00 0.00 East Asian 0.00 0.00 Finnish 0.00 0.00 European (Non-Finnish) 0.00 0.00 Middle Eastern 0.00 0.00 South Asian 0.00 0.00 Other 0.00 0.00
dbNSFP Source: dbNSFP
Pathway Ribosome - Homo sapiens (human) (Consensus) Haploinsufficiency Scores
pHI
hipred
hipred_score
ghis 0.414 Gene ontology Biological process translation Cellular component endoplasmic reticulum;cytosol;plasma membrane;cytosolic large ribosomal subunit Molecular function structural constituent of ribosome