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rs80357661

From SNPedia

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


Make rs80357661(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092761
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357661
dbSNP (classic)rs80357661
ClinGenrs80357661
ebirs80357661
HLIrs80357661
Exacrs80357661
Gnomadrs80357661
Varsomers80357661
LitVarrs80357661
Maprs80357661
PheGenIrs80357661
Biobankrs80357661
1000 genomesrs80357661
hgdprs80357661
ensemblrs80357661
geneviewrs80357661
scholarrs80357661
googlers80357661
pharmgkbrs80357661
gwascentralrs80357661
openSNPrs80357661
23andMers80357661
SNPshotrs80357661
SNPdbers80357661
MSV3drs80357661
GWAS Ctlgrs80357661
Max Magnitude6

rs80357661, also known as 2886del4, c.2767_2770delGTTA and p.Val923_Asn924?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80357661(-;-)
Alt rs80357661(-;-)
Reference Rs80357661(GTTA;GTTA)
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.41244778_41244781delTAAC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047966.3, RCV000083190.4,