Variant (rsID / SNP)

rs17883456

rs17883456 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP6V0A2. Location: chromosome 12, position 124,241,506. Clinical significance in the table: Benign.

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Reference-table entries

ATP6V0A2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:124241506
Cytoband: 12q24.31
HGVS: NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val)
Allele change: Missense_A813V

Associated conditions / phenotypes

Cutis laxa with osteodystrophy|ALG9 congenital disorder of glycosylation

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.