Variant (rsID / SNP)

rs117918077

rs117918077 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CARD14, SGSH. Location: chromosome 17, position 78,176,044. Clinical significance in the table: Benign.

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Reference-table entries

CARD14Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:78176044
Cytoband: 17q25.3
HGVS: NM_001366385.1(CARD14):c.2044C>T (p.Arg682Trp)
Allele change: Silent

Associated conditions / phenotypes

Pityriasis rubra pilaris|Psoriasis 2|Autoinflammatory syndrome

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.