Variant (rsID / SNP)

rs1045485

rs1045485 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASP8. Location: chromosome 2, position 202,149,589. Clinical significance in the table: Benign.

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Reference-table entries

CASP8Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:202149589
Cytoband: 2q33.1
HGVS: NM_001372051.1(CASP8):c.853G>C (p.Asp285His)
Allele change: Missense_D285H

Associated conditions / phenotypes

Breast cancer, protection against|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.