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Variant (rsID / SNP)

rs150508296

ATP6V0A2

rs150508296 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP6V0A2. Location: chromosome 12, position 124,239,020. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ATP6V0A2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:124239020
Cytoband
12q24.31
HGVS
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=)
Allele change
Synonymous_C743C

Associated conditions / phenotypes

Cutis laxa, recessive|ALG9 congenital disorder of glycosylation

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.