Variant (rsID / SNP)

rs121908368

rs121908368 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP6V0A4. Location: chromosome 7, position 138,424,286. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ATP6V0A4Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:138424286
Cytoband: 7q34
HGVS: NM_020632.3(ATP6V0A4):c.1571C>T (p.Pro524Leu)
Allele change: Missense_P524L

Associated conditions / phenotypes

Autosomal recessive distal renal tubular acidosis|Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss

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.