Variant (rsID / SNP)

rs2071883

rs2071883 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNPLA5. Location: chromosome 22, position 44,286,950. The table records no clinical significance for this variant.

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Reference-table entries

PNPLA5Not classified

Variant type: missense_variant
Chromosome / position: 22:44286950
HGVS: NM_138814.4,c.418C>T,p.Leu140Phe
Allele change: Missense_L140F

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.