GeneBe

TMLHE-AS1

TMLHE antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): X:155457738-155611616

Links

ENSG00000224533 ∙ NCBI:100507404 ∙ ∙ HGNC:44261 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TMLHE-AS1 gene.

  • not provided (16 variants)
  • Epsilon-trimethyllysine hydroxylase deficiency (12 variants)
  • Inborn genetic diseases (10 variants)
  • not specified (5 variants)
  • Congenital cerebellar hypoplasia (1 variants)
  • TMLHE-related condition (1 variants)
  • Intellectual disability (1 variants)
  • Cerebellar vermis hypoplasia;Corpus callosum, agenesis of (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMLHE-AS1 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
0
missense
0
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
1
clinvar
3
clinvar
25
clinvar
7
clinvar
1
clinvar
 37
Total 1 3 25 7 1

Highest pathogenic variant AF is 0.0000178

Variants in TMLHE-AS1

This is a list of pathogenic ClinVar variants found in the TMLHE-AS1 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-155491566-T-C not specified Uncertain significance (Jun 03, 2022)2293621
X-155491606-G-A Uncertain significance (Oct 22, 2020)1317993
X-155491623-C-T not specified Uncertain significance (Feb 06, 2023)2480649
X-155491644-C-T not specified Uncertain significance (Mar 18, 2024)3327262
X-155492384-C-A Epsilon-trimethyllysine hydroxylase deficiency • not specified Uncertain significance (May 04, 2022)225230
X-155504770-AAACTGGAAAGAGTCCAGATGTGTATTCATAAAAGAAGAGATAAACAGAACAGGCAAAAATCTAATCTATAGTGGTAAAAGAAAATCAAACTGTGGGTTCCTCTGAGATGTATGTGCAGAAGTATGAGAGTACTTCCTGTAGTGATAGTAATATTTTATATCTTGATAAGGGTTTGGGTTAAATAGGTATATGCATTGGTCAAAACTCAGTGAGTGTATATTTAATATTTTAAACATCATTGCATATACATTGTAACTTTAAAAAGCTGTAAGCAAATATTGAACTCTACTTAATGATATAAATGTTGAAGTATTAGGGAGATATGTACTGATATCTGCAATGTATTATACTTTAAAATTCACTGAAAATAAGATTAACTGATGAATGAATAGATGGGAAGATAGGTGATAAAGCAAGTATAGAAATATCTTAATGGTAGAATCTAGATGTAAGTCTATGGCTTTTCTGTGTTAAATGTTTTCAACTTTTCTATATGTTTAGAAATGTTCATAATAAAATGTTGGGAAAATAGAGTTACTACTCATTGTTTTAGGCACTTAGATATATGAGAGATAACAGAGGGAGAGTTTCCCAGAGGAACTTATCCAAGGGAAGTAAATTAATATTTACACAGTTCCTCCTACAAGCCAGGGGTAAAGGTAAGGATAACAATTTATTTTTAACTTCACAACAAGTGGGCACAGAAGGTATTATTATTGTAACTGGAAACTCATGACTAGCAGGTTAAGTAACTTGTCCAAGGCCAAAAATCAATAAATGGCAGACAGGATTTCACACTGAACTCCTTCTGATTACAAAGCCTGTACTCTTTGTAGTATGTCAAGTTTTGCAGCTATCTTCACCCTGCCTCTTCACCCCATATCTCCTTCCCTGCTTTTTTGTTTTTCCCTAGTACTTATCACAATTTGATATATTATATATTTGCTTATTTATTTTTAATTACTCTGTCGTCACTATAATGAGAATTCCAAGATGGCCAGGAATTTTTGTCTATTGTGCCTACAGTTTCATCTGCAGTGTCAAGAACAGAGCATGACTCTTGGTAGATGCTCATGAAATATTTGCTGAGTAAACTGAATTAATGCACAGTAACAGTTTGCTTGGAATAAGCAGAAGCAGGAGCGGTAATCCATCTGCAAAAATGCATAGTAAAAAGCTTGGCTGCAAGATGCAAAATAATGGGCTCCAGAAACCCAAAGCAGTTTGGAATAGCTAGGGAAGAATGTATGGAAAACATGAATTACATGCTAGAAGAGTAAGAAGGGATCAGATCATACAGAACCTTAAAAGCCATAAGGAAGGACTCTAGTCTTTCTCTGAAAGACACTGGGGAGGTTTAGAAGGATCTTAACATGGGAGCAGAAGATAAGACTCAGCATGAAAAATTAATGGAAGAGGGCTCACAATGGAAGCAAGGACATCAGTTACAACTTTAGCCATGGGAAAGAAAAGTGTTCTCACTGCAAGAAGAGGCATTGTAGATAGAAAGCAGGGGATAGTTTGAGAAAAATATAGGAGATTGAGTTGATAAGACTGGTTGTGTAATATAAGGGAGAGGGAAAAATTAAATATGATGTTTGGTTTATGGCTTGGGAAACTTAGTGGATGGTGGTACCATTCAATGAAAATGGGAAAACAAGTGGAGAAGTAGGTTTAAAATGAGTAGAAGTGATGAGTTCACGTTTGAATATGATATGTTTTATATTCTACAAAATATCTAAGTTGTGATATCAGTAGTCAATTGAATACACAGGTCAAGAGCTTTGCATAAATCTGGGCTGGATACATAAATGTTGTTGGGTAACCTAGCTGTTTGGTCACTGAGGATAATTTAATAACTCTTTTTCATTTAATAATGTTTTCATTTAAAAAATACTACCTCTAATATTTGACCCCACCCCTAAAATAAACCTAGTATTCTTTGGTTGGTGGCTATTTACTATTCCATGGGAATTATAAGAAGAATACAAACTGTTTGATAATAAAAAGCTATAGAATAGCAAGATTAAAATGTAGCAGATATAAGAATCTTAGGGATTTTTGTTACATTAGAAGGCTAATCTTTGGCAAATATATTACAGTTGGGGATAGTTCTTTGATACTCACCTGATCAAATACAGCTCTTTATTCCATGGGTAGATATTTAAGACTGGCCCAATCCCAATCATGTGGTTGTGACATTCTCCAACATCTTCAATATATTCATGCTTCAATGGCACTTTACTGAGGAGTTCAAATTCCTCAGGTGCCTTTTGAAGTACCTGTTCTGCTGCATAGAATCCATCTACTAGCAGTGTCCTGCCACCAGTTCCTTCATGTTTAAGACAATGAAACACTTGAATGCTAAAGAGAGAAAAGAAAATTCTTCTGTTCAGTGGAAGAGAGAACATATCAAAATTCTAGAAATTATATATAAAATGATTACTGAAACTACTTGTCATTTTCTTTTCATTTCCTAATTGGAAATCTCATTTCTTAATTGTTTTTCTCTCATAGGCAGTTGTACTTTTTTGTGTTTTGAAATATTAATGCCACTAGAGGTTTCTTCTAAACATATCTAACATATATTGAAGCTTATATGTGCTGGGCCCTGGGAATACAGGCATGAATAATATATAACCTATATTTTCAAGAAGCTCATAGTCTAGTAAGAAGAACTAAAGCAAATAAATACCAAATAAAATATGATAGGTACTATAATAAAGTTGCATACAAGATATAGTGGGGTCATAAACAAAGGAATGATCTGTTCTAGCGGGGTGTTGTATAAAGAAATGTTTTGGAGAAGAATGAAAATTGTTTTGACTAATCTTAAAGAATGAGCAAGAATTGGAGTAGAAGGAGATTGAGATGAGGAGAAGGCATTCTAGGCGGAGAGAAAGCATGACCAAAGATACCAATGTAAAACAACAAGGAGTAAGAAGTTCCTATTGGCATAGCACAGAGAACCACAAAATGATTTTAAACTGTGAAACTCTACGGCCATATCAATATTTTAAAGAGTCCATTATGTTGATAGTGTGGAACATGGACTGGTGAGAAGCAACGTGACAAAAAACTTGGAAACCAACTTGAACAACTGAAATAGTAAAGAAAAATATTGAGAGCTTGAACTCAGAAAGGGGCGTTATAGAGAAGAAGACACACCTGAGAGATACCGAGATAGAAGTAGCAGAATTTGATAACTGAAGGATAGGCAAGAATCTAGAATAACTCCAGGTTTCTCACTTGGGCACCTGAAAAATGATAATGCTATTTACTAAGACCGAGATTACAGACAGATATGCTGTTGAATGATAATGAGGAAGTATGAGAGGTTGAGGAAGGAGTTCAGTTTAGAGGCATGTTAGAACAGCTAATCATATACAGTTTCTGAATATGTTAACAGGGAAAGGTAAGGTGACTATTAATTGACTGGAAAACTAAGGTAGAATTTTCAAACTTATGAGGGAAAATAAAATTAATAGTAATTTAATCAAATATGCAAAACTAAGAAAAAGTAAAAAGCAAATTAAAATAAGAAATAAACAAAAATATGGAGTAAAATCAAGGACAATCTAATATAATATAAATACAATTAAAAAGAGAAAGGTAAGCCTGGCCATATTGAAATTTCTGTGAAACTTCTAGGTCAGGGTTATTTAGTTACCAGTTAAAGATGTTTAAGGAAGAGAGGTGGATTTTGTTACAAGTGATAGCTAAAGCCAAGAGCATGGAAGAGGTCGTTTGGAGAGATCATTTCAAGTAAGAAAAGAGGGATAAGGAGAAAACCTTGAGGAAGAATAATATTTAGGAAATAGACAAAAGAAGCCAGCAAAGGAGGCTGAGGAAAAATGGTCAGATATATAGGAAGAAAACTAGGAAAGAAGGAATATTTAAGAAATTTAGTAGTGGTTAATGGTATGTCTCAGGGATCAAGTAAGATGACAGTACACACTGGATATGACAATTAGTTGCTGGTGACGTTAGAGAGAGTAACTTTAATTGCGGTGAGGGGTGGGTTGGGAAAACTAGATGCCTATGGGTTTGAGGAGTAAATGGGAAGTGAGAATGAAAATATATTGAATGTAGCTATTATTCTTTTAATAATCTTAGCCATGAAGTGGAAGAAAAAAACATGGCTGTAGCTAAACGGAGATAGAGTCCAAGGAAGTACAAAAATAGAGAATTAAGATATGGGAGGCTGATAAGAAGGAGTCAATAGGTATGGAAAGGCTGAAGATAGAGGAGAGAGAAATCCCCAAGGAAGCTGGAAAGGATGAGATCCAGAGCAAAGATAGCTTTAGAGAGAGTAAAGCATATAACAATGAAGATAGTGATTAAAATGAATAAAATGATGAAAATTATAGCTAATATTTATTGAACACTTAGTTTGTGTCAGGCAGTATGATCATATAATTTAATTCCTTAGCAATGCTAATGGATAGGTTAGTTTGTGTCAGGCAATATGATCATATAATTTAATTCCTTAGCAATGCTAATGGATAGGTTTTATATTACTAGTCCCATTTTACAGATGAGGAAACTGAAGTACAGAGAAATTAAGTTACTTGTCCAAGATCACAAATCTAATACATGTTGAGGCTGGAATGCAAATCTGGGTCTGGTTGATGCCATAGCCTGAACTCTTAAGTGCTATTACCATACTGCTAATTTACTTGGTCCTTGCCATTGATTACAAACAATTAAACTAAAGCCACAAACAGTTGTTTATCTCTGGTGTTGGTCATAAAGGGAAGAGCTAGTCAGTATTTGAACCTCAACCCCTGTACAGCTGCTTCTTATCTCATTTCCTCTTTTTTCCTTCTGTATCCACTAGAATGAGGATGCAGGGTTGTTGATCTCTCCATATATTGATAACATTTATCAGGATATCTAAAAGCTGCTTTGTTCTTCCTTCCCTGAATCAAACATTCTTAAGTTATAAACCCTTAAAGGAAATCAGTGTAACCATGAGCAATTGCATATTATCATCCTCTCATATAGTCTCCATAAATCTATGTGCACTCATTTTACTCATATCTTTGTGTCTCAGGCTCACCATCTAAATGCAGAAGCAAGATCAAGAACACGGAATAACCACAGAGGTGCCTCTACTGAAGAGCAAATGGTAGGAAAATTGAGTATAGTATGTATCATCTTTGGTTCAAAAGCATCTTATTCCGTGTGAAGAAGTTATTCTTCCATCATTCCTCCTCTCCAACTTCTTGTAAATCAGATTCAAATTCTTCTTAATGCCATACTCAAAGCAGCTGTGTTTGCATGACGACCCTTTTGCAATATGTTAATAACTAAATGCAAGAAATCTGTACAAATTCCAAAACTAATGGTTAGGCAATACTTTTTTGGGGGATAATTTATAATTACTTTGAAAAATGTAAAATTACATTTTAATAATTAACAAAATTAGGACTCCATTTATATAGTAAGATGAGTTTTCTTTTTATTTTATTTTATTTTATTTTATTTTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTTGTTACATATGTATACATGTGCCATGCTGGTGTGCTGCACCCACTAACTCATCATCTAGCATTAGGTATATCTCCCGATGCTATCCCTCCCCCCTCCCCCCACCCCACAACAGTCCCCAGAGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGAACATGCGGTGTTTGGTTTGTTGTTCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTCCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTTATCCAGTCTATCGTTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCACAGTAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTTCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTAATGATGAGCATTTTCTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAACTTAAAAATATTTTATTCCTAGGAGTCTGATATAGTTTGGATATTTATCCCCACCAAAATCTCATGTTGAATTGTAATCTCCAGTGCTGGAGGTAGGGCCTGGTGGAAGTGTTTAGCTCATGGAGGTGGATAACTGATGGCTTGGTGCTGTCTTCAGATAGTGAGTGAGTTCCTGTGACAGCTAGCTGTTTAAAAGTGTGTGGCACCTCCTCCCTGACTCTCTCTCACTTGCTCCTGTTTTTGCCATGTGAACTGTTTGCTCCCCGCTCACCTTCCACCATGATTGGAAGCTCCCTGAGGCCTCCCCAGAAGAAGATGCTGCTATGCTTTCTGTATAGCCTGCAGAACCATGAGACAATTAAATCTCTCTTTTTTTTTTTTATAAATTACCCAGTCTCAGGTATTTATTTATAGCAATGCAAGAATGGCCTAATACAGAATCTAAAAACTGAGTTAAGGTATTTCAAAATGATCATGTTTCTAGGGGAAGAGAAAGTCATACAAATCTGCAGGAGCAGATATGATCTTGGTTCGAACAGAATGGAAAATAATTAAGAAACCACTCAAGACTATCACATATAAAGACTTTACACTGTAAAAGTCTAATCCACCTACCCACAGGGCTCTTGAAAATAGGTAGTGTCAGTGTGCCGATCCAGAGCTAGCTTGGTGTACGCAGTGTCACCTCTGGAGAAGTCTGAAGTGAAATACCACATCCTCCCATAAATGGTTTCTCTGTTAGTTGAAATAAAGAAAGACCTGTTAGCTATTTGAAATGTTCATTCTTGTCTTTCAAAACTCCTTCCAATACCTTCTTTAGTTACTCACAAATAACAGTAGATTTTTTTGGTTCCAGAATTTAATCCATAAGGTGAAAATGACAGTTGAACATGCTAGTCTTGACAATTCTGTCACTTATTAACATTCTAGAAAGTTGGGGAGAAAACTGTGGAAGTATAATATTGTATTATGAAAGCTTGGAGAATCATCCCACTCTGATTATGTGCCCAGTTTTCATAGCCTTCATAAATTCAAGGTTCTTTTCTATGCTCACCTTTCTTTCACAGAAAAAGATATAGCTGCTTCTGGAAGTGATTTTTTTATTTTATTTTATTAATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTTGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACTCATCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTTCCCCCCACCCCACAACAGTCCCCAGAGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTCCTTGCGATAGTTTACTGAGAATGAGGATTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTAACTTTATTTACTATTTTTATAGCTGTTGTCTTTTATTAGTACCATTTTTTCAATAATGGTGGTCATTTCCTAATATTTTGGATAATCCAATTTGCAAGGATGACTGAAGAGTTCTCATATTATTTATAAGACACAGAAGTGATTAATGTAGATCCTCACTCATCTTTTGGACATGGAGGAATAAAGAAAAGAGAAAAGGATAGTTTGTGTTAGCAAGTATTTAGTGAGACTTGCTGTACCATTGTTGTTGTGTCTCTCCTTGAAGTATACATCATATATTTTGATTTTGTAATTATTTTCCTGTTCGGCTCAAATCTGACTAAAGGTCACTTTAATTCTTTAGCTTTCAAAGTTCATCTTATTTTCTGAACCCTTGAAGTTCAAATAGGAAATGCTCTTCCTTTTGAACTATCATCCCTAAAACTGTCTCAATTTATCACTTACCAGCACAGTTTCTTTCACTTGAAAGTTCTCAAACTGTGATTCAAACTGAATGGCTCACAGATGCTGTTGATTATGCTCTACCAGCACAGGGAAGAAGACCCAGCATACTATCTACTACAAAATGAGCTATATCTGGATCTTATTAAGTAAAAGGAAAGTACTAATTATAATAAAGTAGGTTGACATCACACTTAATACTATAGAAGATCAATCTATATACCACCCAAAAGTGCGTAATGGTAATGAAAAAAACAATGTATTTAGGATTAGGAAACCTGGGCTATTTGAATTCAAGTTCTATTGTTTACTAGTAGAGCACTCCTGGGCAAGACACTTGGTATATTTGAGTGTCAGTGCCTCAGCAGTAAAACGGGGACAAAACACACACTGATCAGGGTTCCTATAATAATTAAAAGAAAATAATGGGTGGGAATGTGCTGGCTGAATGCTATATAGCCTTTTAAGGCAGTGTTATTAACAATCAGTCTCTGAATCAAGCCACAGGAATCACAGAAGGTCAAATTGAACAGATGGGAAAATAGAGGACAGTGGGGGTCGAGGGGGTGTGTGTGTGTGTGTGTGTGTGTAATGGACATGCCTATGGTCACACAACTACTTGATGGTAGAACTCAGACTACTATCCAGTTCTCCTTACAGTCAGTGTTTTTTTCCAGTGTACAATAATACCTGTCACTTGGGATCACTGGGCTAGAAACATATTACCAATGACTCTGCAGTCATCATTATATTTTACACATAAGTGTATTTAGAGATTAGAAATCCAGACCTCAAATAAAGTACTGCAAGTGAGAGTCCCTTATTCATGCTACAAAATATTCTGGATTGAAAACGAGGGTGACC-A Epsilon-trimethyllysine hydroxylase deficiency Uncertain significance (Mar 05, 2021)1342626
X-155506930-G-A TMLHE-related disorder Likely benign (Apr 04, 2019)3051170
X-155506930-GAT-G Epsilon-trimethyllysine hydroxylase deficiency Pathogenic (May 04, 2022)225231
X-155506955-A-G not specified Uncertain significance (Jun 16, 2024)3327264
X-155507053-C-A not specified Uncertain significance (Jan 16, 2024)3179800
X-155507054-T-C not specified Uncertain significance (Dec 11, 2023)3179799
X-155507063-G-A not specified Uncertain significance (Feb 13, 2023)2483007
X-155507095-A-G Likely benign (Mar 01, 2023)749213
X-155507099-G-A Epsilon-trimethyllysine hydroxylase deficiency Uncertain significance (Aug 02, 2017)450888
X-155511701-C-G Epsilon-trimethyllysine hydroxylase deficiency risk factor (Oct 23, 2012)225229
X-155511701-C-T not specified Uncertain significance (Mar 25, 2024)3327263
X-155511709-C-T Likely benign (Oct 01, 2022)2661879
X-155511725-T-A Uncertain significance (Dec 07, 2021)2690241
X-155511727-G-T not specified • TMLHE-related disorder Likely benign (Feb 20, 2017)507632
X-155511733-G-A Uncertain significance (Aug 01, 2021)1299221
X-155511738-G-A Uncertain significance (Oct 17, 2022)2429077
X-155511760-G-A TMLHE-related disorder Uncertain significance (Sep 26, 2023)2630958
X-155511762-G-A Likely benign (Jul 31, 2018)761663
X-155513983-TA-T Epsilon-trimethyllysine hydroxylase deficiency Likely pathogenic (Nov 20, 2018)1299348
X-155513995-C-T not specified Uncertain significance (Jun 16, 2022)2284026

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP