Variant (rsID / SNP)

rs28939081

rs28939081 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP6V0A4. Location: chromosome 7, position 138,394,378. Clinical significance in the table: Pathogenic.

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Reference-table entries

ATP6V0A4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:138394378
Cytoband: 7q34
HGVS: NM_020632.3(ATP6V0A4):c.2420G>A (p.Arg807Gln)
Allele change: Missense_R807Q

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.