Variant (rsID / SNP)

rs141321409

rs141321409 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VPS13A. Location: chromosome 9, position 80,020,818. Clinical significance in the table: Uncertain significance.

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Reference-table entries

VPS13AUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:80020818
Cytoband: 9q21.2
HGVS: NM_033305.3(VPS13A):c.9314T>A (p.Leu3105His)
Allele change: Missense_L3066H

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.