Variant (rsID / SNP)

rs147250093

rs147250093 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP6V1B1. Location: chromosome 2, position 71,191,937. Clinical significance in the table: Benign.

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Reference-table entries

ATP6V1B1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:71191937
Cytoband: 2p13.3
HGVS: NM_001692.4(ATP6V1B1):c.1320T>G (p.Ser440=)
Allele change: Synonymous_S440S

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.