NAXD-AS1

NAXD antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 13:110613082-110616353

Links

ENSG00000275880 ∙ ∙ ∙ HGNC:56341 ∙ ∙ ∙ 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 NAXD-AS1 gene.

• not provided (11 variants)
• NAD(P)HX dehydratase deficiency (3 variants)
• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NAXD-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		6	5	2	14
Total	1	0	6	5	2

Variants in NAXD-AS1

This is a list of pathogenic ClinVar variants found in the NAXD-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
13-110615007-CCACAAGTTTCTTTTAGCACCATGACGGTGGCTTCAAATAGGGCGGCAGTGGAGGTAAGAGGCCATCAGCCACAGGAGGAGCGTGGGTGGGAGGGCAGGAGAGGTCAGAATGCCTTCCAGGGGTTTGGGCCTCAGCGTTGGAGTGATGGAGCTGCCCTGACCTGAGACGGTGGAAAGCGAAGGGGCCTCGCAGCGAGCTGGTTTGGGGTTCAGGGCAGAGGTTGCGCCTGGAGCAGAAAGGCACCTGACTGCTATACTGGGGGCACATAGTGGGCCTCGGCACTCCACCTGCCAGCAAAATCATTTTCTATAACGCCGCAAGCCTAAAAATGGGCCGATAAACACAAACCAGACCCTGAACCAGATCGTTGTTAACTCTTCAACCTGCCTTCCAGCCGAACCTCTTAGGCCAGAGCTGGGACCAGGCCGGGTTGGGCGTCGCGCTTGTCAATCATCTAGAACCGGGTGTGATTGAGCGAGTTGGGATCCCACTGCCGACAGCCGCGCGGAGGCGGTCGGGAAACCGGAAAACGCTTCCAATGGCTGTGTTTCCGGCGACGGCGCGGGGGCAGCTGGGAATCCGGAATGCTGCCCGATGGCCCTGGGTCCTCGCTGTGGGGCAATCCGGGCTTGCAGACGAGGTAAGGTCGATTCCATTTGGCCCGGGGATGGTCACACGCGCGGGGGCCGGAACTGCCGTCGCCGGCGCGGTCGTTGTCGCATTGCTCTCGGCCGCACTCGCGCTGTACGGGCCGCCACTGGACGCAGGTACCCGACCGCTGACCGCCTCTGCTGGCTCGCGGGGGGGAAGCGCCGCCGAGGGGCAGCCCGCGCGCGGGGCCGGGGCGCCGTGTGGCCTGCGGGGCGGAGTAGGGAGAGGACGGAGGCCTCCTGGAACGGCGCGGCGACGGCTGGGCGCGGCTTGGGTGATGGGAGCCTCCGTGCGGGGTGACAGAGGGGCAGAGGGTGGCGCCGGGCCGGAGCCAGTGCGCGTCCCAGGAGCGGCGGAGCCCGCGCGGTGGCCGGGGAACGGGGGGCCGAGGGCCGAGGACGGTAGGAGGGCCCTGGGGCGCCGTGGTGCGCTGGTCGGATCCGTCTGCTCTGCTCTGTCCCCGCTCCCGGTCTGGGAAAGATGCTCGCCAACTGCGGGCTTGCTGTTTGGTCGGAGCTGGATACGGGGGCCCTCCTGGGGCCCAGGGACGCGGCGGGCGTGCAGGCGAGCTGGCCGGCTGAGCGGGCTTCGCGCACACCAGGAGCAGGGCCGTGTCTGCATCCCCAATTTGAAGTCCCAGTGCGACTGGGCAAGTACAGACCCTGCACGTCCTTGGACGAGAGGGACTGGATATTGCGACGCCTGGGCCGCAGAAAAGGACTCCACCAGCCAGGCCTCCTTCGCCCGCCCCCGGTTCGGGGTGTGTGTGTGCGTGTAGGAGGTCCCTTGGGGAGGGAGGCTCACCTGAGTCATCCCCAGAACCTGAAGTGCTGGCCAGATGTCCCCGAGGGCCCTGCCCTGGCCTTGGCTGGTCCTTGCACGCTGAGATGCCTTTTCAAATAGAACGGATAAGGTAGAAAGAATTTAAACAGGAGCTGAGCAAGTGCTTGGAGCCCCATCTCTTCATAGGGTTTTTTTGTCTTTCTGTTTGCCTTGTTGGTATTGGTGTATCTAACATATTTTATACAGGAAGTAGTTCGTGTATATCTCATTTCTCATAAGGAGAGATTGCTGTTATCCACCTTGGTATAGAAGATAAATAGAAGCTCAGAGAAAGTGACTTAGCCAGGATTCTCCAGCCAGTGAGTGGCCGAAATGGTTAAACGCACCATTTGTTGCTGTAGTCATTAGATAGATTTTACCTTGTGTGTATGTTGGGCATCGTCAGAGAGTTTGGCTTTTTGTTTTCATCAGCACACACTGAGAATGCACTGGGTGGCGCTGAGAGGGTACTCTACACTGCACCTCACTCACACCAGCAGGGAGGCTTCTTAACACTTTATTTAGAGATTTATTTGTAGCTCTTTACCTTAAATTCACACACCGTGATTAGTAGCAAGATTTTTCATTGCGCTTGGTTGAGGATTTATTATCAGACTGCCTAAACTTTTACGAAAAGCCAGGTAGAGTTGTATATTACTGAGGCTTTAGGAAATATTTCAGTTAACTTAGGGATTGTGGTTAAATGCTCTAAATTAGTTATAACTCACATTAACTTAAAGTATTTTTGTTTTTTTAAGTAGAATTTTCCAGTACTAAAAGCACTTTTAGCACAAAGCAGCAGTGATAGTCTTCCCCAGACACGCTTCCTTAAAACAAAAGCCAAACAAATTTAACCTGTTCTTCCAGACTCAGAATTGTCTGAAGAGTTACCGAATGGGATACATCTTAAGTCGCCTATTGTCAAGGCCTTTTTATCCTTCAGAACTTTGATCTTTATATGTAAATGTTTCTGTGTTAACATTTGAAATGTTAAGTTCAAATGGTGACGTCAGTAAGCCAGCTGGAACTTGCTTCACTGCCAAGTGCTGGGAAGTTTAGTTGACCTGCTTTGGCCCTTTTGCTAACAGAAGCTGTTTATCTTAGGTGAATGCTGGTGAGCAGCCTGGATTTTACTTTGTGTTAATACAATTCTATTCAAGTGAAAATGCTATACTTCTTATTTTGCCTTAAAATGGCAGCATTTTACACCTACTGTGTGCCCACAAAAATAAAAACAAAAACATGGCAGCACTTTGGTAAAATAGTGTCTTGTGGCCTGGCTTGTCCATTACTAACCACAGCATCTGCACAGGTTTCTCTCTGGGCCCCAGTTTCCTTATCTGTAAAAGAAAGATAAAGTGCTAGTGAGGAGAGTGAATCACGATGTCTTGACTTCATCGAACATGTATCAAGTGTCTTGTTCTGTGCCAGGCTGTGTTCGAGGTGATTGAGTCCCACATGGAAGCAGTCAGTGCTGCAGCTTGCGGATGGTGCCACATTCCTCGTGGGCAGGCAGTAGTAGGGTGCTGATTCTCTGCCAGTCCAGACATAAGAACTTCCTTCTTATGTCCAGGTCAGCCCCTACCATGTAGGTTGTCTGTGTGCTCGAAAGGTTTCAGAACCCCACATGTAATAATAGTTACTTTTGGTATCACTTTGAATTTTTAAAATTATGTAGCAAAAAAGTTACTATTAATTATATTATGAGTTTAACATAATTTTAAGCTAGCTTCCATTTGAGAGCCGTTGTTCTCATGTGTAAATCTTGAAATATTCAGTTTCTGGATGGCGCTTCTTGTTCTCCAGGGTTCTTAGACCCAGCCCTTACGGTAGCATCATGGCCAGGGAACTGGGAATCTCACAAAGTCTTAAGATTTCACAACGGAACAGGAGCAGGAGGAGGCGACTCCCGCTGGTGGGTTGATCAAGTTGCTGTGAAGGTGGTTTGCACATTTTGGGCTTCAAAACACTACCTTCTGTATAAGATAAAGGAATAGCTCAGAACAGGATTCCCCCCGTGTTTTCTTCCTAGCTATGATAAAGATTGCCGTGTGAATGCAGTGGGTTTTACACACTCAGAATTGATATTTTTGGCTTGTGGTAAATGGGACTTTAATGCTTAACCTGCTGTAGAAAAATCCGCCTTAGAAAGTGGCCCTTATTCGTATATTGTATTCGATGTTTGAGCCCCCTGATATCTTATCATTTTAACAAAGCTTACCTTGAAGTGCAGGAAAAATTGTATGTGTTCTTGTCATTATTTGAATAACAACAAAAATCAGTATTAGCTTTAAAGCCTGTAGGTTTTAAGCGTATCCTTGCCTGGACTAGCATATCTCCTCTTTCTCAACCAAAAAGATCAGAAAGGTGCTATCCCAGTACCAAAAGTACTGGGAGGACTTTCAGCAGAGTGTGACGCAGAAGGGAAGCTTTTCCGCTCTGGGGAGCAGATGCGGAGAGGACAAGCACTTGGAACACAGCATCCCTGGGAGCTCTGGTGCTGCAGTTGTGACCCCGAGGCGGCCCTGCTGTGCCCTCCTGGGAGTGCTGGGCGACACTGGTTGCAGAGGGGCATTGGTGCTCCCCTCCACCTGACAGGTGCTCCACCTGGACTCGTGGCTGCAGCTTAATTTTGTGTCAGATCCTTTCCGGTAATGTATAGGTTATTTCAACTATGAGGCAAAGTGCAAATGGGTAGTTCAGTGTGGGTTTATGGTATTTGCCCTTTTTGATATAAACATTAAATATTTCATACCTCACCTATAGTACTTTTTTTAAGACTTAAATCTGAAATTTAAGATACAGATGTTTGTAAGATATGAATCTTGGATATTGGGAGAAAGAAGCCTCCTGGAAAATATACAGTATTATCTGGTGGAACCATTTTATTCCTTTTCTTATTGTGAGAAATACACATTTATGAAGTATTACCATTTAGGAGTTGTTTTCATCAGGCAGGGTACATTGATATAAATGTTGATTTTTAACATCCGTAAGTTGAAGTCTGACTAAATTGTTTTTCTCTGTGATTTCATAAGTCACAATTTATATTTTATATGACCTTAAATATTTAATTTGAAGTACTGGTATATTTAAAGGTGCTAAAACTACACGCATGCATCTCTACTAGTGGTTCTTAACCCAGGCTCATTTTGCCCCATCCAGAAGACATTTGGGAGTGTTGAGATATTGCTGGTTGTCACCACTGGGTGCGTGTACATGCACTGCTGACTGGGTAGAAGCCGGGGATGCTGCTCAGCATCCTTCAGTGCATAGAACAGCTCCCCACGACAAAGACAGGATGCTGATCGATACCCATAAATGTCTTTTTTTTTGAGACAAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAGCCTCCACCTTCTGGGTTCAAACAGTTCTTCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCACCACCGTGCCCAACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGCGGGGAGCCACTGCGCCTGGCCCCATAAATGTCTCTTCTAGACAAGTGTATTGTTTTAAAACCATAATTTAGCCCTCCTGGAGGGATTTCAAGGATGGGTGCATTGGTCCCCTGCAGGTAGCTCAGCAAGCTTCATTGTGTCTCTCCTTGGCCCACAGTTTATAGTGATTCTGTGCCGGGTCTTGTGTGTTGGTCTGGAAGAAGGTGAAAAGATTTGGGGTTGGGCTGAGCGCGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCCCGTCTCTGCTAAAAATACAAAAATTAGCTGGGCGTGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGACGCAGGAGAATTGCTTGGACCAGGGGGTCGTAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGAATTTGGGTTGATGGGGATTCATAGGATCTTTTTATCTTGGGGAATCCCAGCATCTGCTCTATCAGCTAAGGCAGTTACATCTACTCATAAAGAAAATTCCTTCAAAAGTTTTGTTGAGTAAAAAGTAAAACTGTAAGAGTTAAAAGACAAAGCTCTTTTGCTGTGAAACGCTCAGTGAGCTTTGGACTGCAGTCAGTGGAACTTGTGACACTGGTTTTTCTCTGCTGCTGAGATAATTGGAAGGATAAAAATATTGAGTGCCTTGTTTGAAAAAATACTGTTTATATTTGCAAAGATCCTTTCATTCTAGGGAGAATGTATGCTTTATTCATTGAGCTCTATAGAACATACCAGCATTTCTCTCATAGCCGAGCTGTTTTAAATATTAAGGTAAAATATATAACACAGGAAGCTCTTCAAGAAAGGCCAATTGAAGTGTAGCTGTTTAGAGACAACTCAAGATGATGAAAATACATTAAATGCCACTTTGAACCCAATTTAAGAGGTGTGCCATATTTAGAATGCCATTTCTAGGTTATTTAATTAATACCCAGTTGAGTGTTGGAATACAGTTGGGAGTAATATGATGAATCTGTCAGACTTCTGAGCACCCCAGCGGATTACAGGTGGGAGCTTGCTTTCCAGTTTGTGAGGAGAGAAAAGACCTAATAATCCTAAAGGGAAATTGAAATGAAGTGATAGTTTATTAAGTAATAATGCATTTTTTTACTTGATAAAACTTTCTGGAAAATTAAATGGTCTTCCAAAATTTCAGATACATTTCAAAAATAAACCTGATAGAAATAGCATATGTTGTCCTGGTGGGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTAAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCAGGGCAGGGTGGCAGGTGCCTGTAATCCCAGATACTCCGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCAGGATCGTGCCACTGCACTCCAGCTTGGGTGACAGAGCTAGACTCTGTCTCAAATAAATAAATAAATAGCATGTGTTACTATATGTGTTAATTACATGTGTTCAGGCTGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTGAGAGGCTGCAGCTGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCATGGCCAACATGATGAAACCCTATCTCTACTGAAAATACAAAAATTAGCCAGGTGTGGTAGTAGACACCTATAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTCAGAGTTCGTCTCAAAAAAGAAAAAAAAAATTGCATGTGTTAATGTAATTTTGAACATCATATTTGCTTACAGAAATCCATTGGGTAAAAATCTATAGCATTCGTAATAACTTTGGAGAGGGTTTTGGTTAATGGGCTATTATGTGTACTAACAATATCTGTTTACCTTTCTGAATTATTCATTTTTCTTGTCTTTCAGTTTTAGAAAGAGCGTTTTCGCTACGTAAAGCACATTCGATAAAGGATATGGAAAATACTTTGCAGCTGGTGAGAAATATCATACCTCCTCTGTCTTCCACAAAGCACAAAGGGCAAGATGGAAGAATAGGCGTAGTTGGAGGCTGTCAGGAGTAAGTAGCTGATGTGCAGTGTTGGTGTTTAAAAAGTCAGTTGCTGGCTGGCTGCTTACCTGACTGTCATTCACGCTGTCTAGTTTGACCTCAGTAATCATTTCCAAATGCAGCCTGATAGGACACTCAGTATTTTTCAGTGATCCACTTTTTGATTAACTAGGAAAT-C		NAD(P)HX dehydratase deficiency	Pathogenic (Aug 29, 2022)
13-110615636-C-T		Inborn genetic diseases	Uncertain significance (Jan 01, 2024)
13-110615644-CG-C		NAD(P)HX dehydratase deficiency	Pathogenic (Sep 17, 2020)
13-110615647-G-A		NAD(P)HX dehydratase deficiency	Uncertain significance (Nov 26, 2019)
13-110615686-C-T			Likely benign (Sep 01, 2022)
13-110615713-C-T		NAXD-related disorder	Benign (Jan 22, 2024)
13-110615716-G-C		NAXD-related disorder	Benign/Likely benign (Dec 18, 2023)
13-110615740-C-T			Likely benign (Mar 08, 2023)
13-110615741-G-A			Uncertain significance (Jul 18, 2022)
13-110615746-C-T			Likely benign (Dec 27, 2022)
13-110615748-C-G			Uncertain significance (Jul 15, 2022)
13-110615761-G-A			Likely benign (Nov 29, 2022)
13-110615771-G-A			Uncertain significance (May 27, 2022)
13-110615772-C-T			Uncertain significance (Sep 13, 2022)
13-110615792-G-C			Likely benign (Aug 22, 2022)
13-110615794-C-T			Benign (Oct 08, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP