Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs142905621

ATP6V1B1

rs142905621 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP6V1B1. Location: chromosome 2, position 71,192,103. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

ATP6V1B1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:71192103
Cytoband
2p13.3
HGVS
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His)
Allele change
Missense_R465H

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.