Variant (rsID / SNP)

rs34598813

rs34598813 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNPLA1. Location: chromosome 6, position 36,269,725. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PNPLA1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:36269725
Cytoband: 6p21.31
HGVS: NM_001374623.1(PNPLA1):c.863A>G (p.Glu288Gly)
Allele change: Missense_E202G

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.