Have questions? Visit https://www.reddit.com/r/SNPedia

rs80357855

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
(A;A) 0 common in clinvar


Make rs80357855(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091675
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357855
ebirs80357855
HLIrs80357855
Exacrs80357855
Varsomers80357855
Maprs80357855
PheGenIrs80357855
hapmaprs80357855
1000 genomesrs80357855
hgdprs80357855
ensemblrs80357855
gopubmedrs80357855
geneviewrs80357855
scholarrs80357855
googlers80357855
pharmgkbrs80357855
gwascentralrs80357855
openSNPrs80357855
23andMers80357855
23andMe allrs80357855
SNP Nexus

SNPshotrs80357855
SNPdbers80357855
MSV3drs80357855
GWAS Ctlgrs80357855
Max Magnitude6
rs80357855, also known as 3975delA, c.3856_3856delA and p.Ser1286Valfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357855(;)
Alt rs80357855(;)
Reference rs80357855(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41243692delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048358.2, RCV000112203.1,