Variant (rsID / SNP)

rs117983287

rs117983287 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VPS13A. Location: chromosome 9, position 80,020,874. Clinical significance in the table: Benign.

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Reference-table entries

VPS13ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:80020874
Cytoband: 9q21.2
HGVS: NM_033305.3(VPS13A):c.9370C>A (p.His3124Asn)
Allele change: Missense_H3085N

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.