Variant (rsID / SNP)

rs119477052

rs119477052 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VPS13A. Location: chromosome 9, position 79,820,310. Clinical significance in the table: Pathogenic.

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Reference-table entries

VPS13APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:79820310
Cytoband: 9q21.2
HGVS: NM_033305.3(VPS13A):c.269T>A (p.Ile90Lys)
Allele change: Missense_I90K

Associated conditions / phenotypes

Chorea-acanthocytosis

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.