Variant (rsID / SNP)

rs138716143

rs138716143 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP6V0A2. Location: chromosome 12, position 124,228,816. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ATP6V0A2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:124228816
Cytoband: 12q24.31
HGVS: NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu)
Allele change: Missense_V420L

Associated conditions / phenotypes

ALG9 congenital disorder of glycosylation|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.