Variant (rsID / SNP)

rs17860424

rs17860424 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASP8. Location: chromosome 2, position 202,141,631. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

CASP8Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:202141631
Cytoband: 2q33.1
HGVS: NM_001372051.1(CASP8):c.742C>T (p.Arg248Trp)
Allele change: Missense_R248W

Associated conditions / phenotypes

Autoimmune lymphoproliferative syndrome type 2B

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.