Variant (rsID / SNP)

rs4713956

rs4713956 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNPLA1. Location: chromosome 6, position 36,275,458. Clinical significance in the table: Benign.

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Reference-table entries

PNPLA1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:36275458
Cytoband: 6p21.31
HGVS: NM_001374623.1(PNPLA1):c.1564T>C (p.Ser522Pro)
Allele change: Missense_S436P

Associated conditions / phenotypes

Autosomal recessive congenital ichthyosis 10

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.