Variant (rsID / SNP)

rs527738649

rs527738649 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP6V1B1. Location: chromosome 2, position 71,163,161. 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: 2:71163161
Cytoband: 2p13.3
HGVS: NM_001692.4(ATP6V1B1):c.77T>C (p.Met26Thr)
Allele change: Missense_M26T

Associated conditions / phenotypes

Renal tubular acidosis with progressive nerve deafness

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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