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rs80357635

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AG) 6 BRCA1 variant considered pathogenic for breast cancer
(AG;AG) 0 Normal


Make rs80357635(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092302
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357635
ebirs80357635
HLIrs80357635
Exacrs80357635
Varsomers80357635
Maprs80357635
PheGenIrs80357635
hapmaprs80357635
1000 genomesrs80357635
hgdprs80357635
ensemblrs80357635
gopubmedrs80357635
geneviewrs80357635
scholarrs80357635
googlers80357635
pharmgkbrs80357635
gwascentralrs80357635
openSNPrs80357635
23andMers80357635
23andMe allrs80357635
SNP Nexus

SNPshotrs80357635
SNPdbers80357635
MSV3drs80357635
GWAS Ctlgrs80357635
Max Magnitude6
rs80357635, also known as 3347delAG, c.3228_3229delAG and p.Arg1076_Gly1077ArgAlafs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357635(;)
Alt rs80357635(;)
Reference rs80357635(AG;AG)
Significance Pathogenic
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41244319_41244320delCT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031097.8, RCV000048107.5, RCV000162862.1, RCV000225762.1,