ATP6V1B1-AS1

ATP6V1B1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 2:70941817-70948610

Links

ENSG00000239322 ∙ NCBI:101927750 ∙ ∙ HGNC:51118 ∙ ∙ ∙ 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 ATP6V1B1-AS1 gene.

• not provided (30 variants)
• Renal tubular acidosis with progressive nerve deafness (6 variants)
• not specified (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ATP6V1B1-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	3	8	16	4	32
Total	1	3	8	16	4

Variants in ATP6V1B1-AS1

This is a list of pathogenic ClinVar variants found in the ATP6V1B1-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
2-70943395-TGGG-T			Likely benign (Dec 23, 2018)
2-70943401-C-CAG			Likely benign (Dec 23, 2018)
2-70943405-C-T			Likely benign (Dec 12, 2018)
2-70943438-C-T			Benign (Dec 23, 2018)
2-70943539-C-T			Likely benign (Feb 06, 2020)
2-70943568-GGA-G			Benign (Jan 24, 2021)
2-70943630-C-T			Likely benign (Jun 01, 2020)
2-70943638-C-T			Likely benign (Aug 23, 2023)
2-70943639-AC-A			Benign (Sep 14, 2023)
2-70943644-C-T			Likely benign (Jan 15, 2025)
2-70943645-G-A			Likely benign (Oct 17, 2023)
2-70943645-G-C			Likely benign (Jul 26, 2021)
2-70943648-C-T		Renal tubular acidosis with progressive nerve deafness	Conflicting classifications of pathogenicity (Feb 16, 2024)
2-70943651-C-A		Renal tubular acidosis with progressive nerve deafness	Uncertain significance (May 14, 2024)
2-70943651-C-T			Likely benign (Jun 05, 2023)
2-70943653-C-A			Likely benign (Apr 14, 2023)
2-70943653-C-T			Likely benign (Jan 12, 2025)
2-70943657-G-T			Likely pathogenic (Aug 18, 2018)
2-70943662-C-G		Renal tubular acidosis with progressive nerve deafness	Pathogenic/Likely pathogenic (Apr 02, 2024)
2-70943662-C-T			Likely benign (Oct 06, 2023)
2-70943669-G-T			Uncertain significance (Dec 14, 2021)
2-70943670-TGTGCAGCGTGAACGGGCCCCTGGTG-T		Renal tubular acidosis with progressive nerve deafness	Likely pathogenic (Mar 01, 2022)
2-70943677-C-T		not specified • Renal tubular acidosis with progressive nerve deafness	Benign (Feb 03, 2025)
2-70943683-C-T		not specified • Renal tubular acidosis with progressive nerve deafness • ATP6V1B1-related disorder	Benign/Likely benign (Dec 23, 2024)
2-70943684-G-A		ATP6V1B1-related disorder	Uncertain significance (Jun 20, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP