Variant (rsID / SNP)

rs61747674

rs61747674 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP6V0A4. Location: chromosome 7, position 138,434,059. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ATP6V0A4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:138434059
Cytoband: 7q34
HGVS: NM_020632.3(ATP6V0A4):c.1033C>A (p.Leu345Ile)
Allele change: Missense_L345I

Associated conditions / phenotypes

Autosomal recessive distal renal tubular acidosis

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.