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Variant (rsID / SNP)

rs145735762

ATP6V1B1

rs145735762 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP6V1B1. Location: chromosome 2, position 71,189,936. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ATP6V1B1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:71189936
Cytoband
2p13.3
HGVS
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val)
Allele change
Missense_A272V

Associated conditions / phenotypes

Renal tubular acidosis with progressive nerve deafness

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.