Variant (rsID / SNP)

rs80356750

rs80356750 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP6V0A2. Location: chromosome 12, position 124,203,239. Clinical significance in the table: Pathogenic.

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Reference-table entries

ATP6V0A2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:124203239
Cytoband: 12q24.31
HGVS: NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter)
Allele change: Nonsense_R63X

Associated conditions / phenotypes

Cutis laxa with osteodystrophy

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.