Variant (rsID / SNP)

rs2271791

rs2271791 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP13A5, PLAAT1. Location: chromosome 3, position 192,994,543. The table records no clinical significance for this variant.

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Reference-table entries

ATP13A5Not classified

Variant type: missense_variant
Chromosome / position: 3:192994543
HGVS: NM_198505.4,c.3392T>C,p.Val1131Ala
Allele change: Missense_V1131A

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.