Variant (rsID / SNP)

rs12199580

rs12199580 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNPLA1. Location: chromosome 6, position 36,270,130. 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: 6:36270130
Cytoband: 6p21.31
HGVS: NM_001374623.1(PNPLA1):c.1268C>A (p.Pro423His)
Allele change: Missense_P337H

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.