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rs80357649

From SNPedia

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


Make rs80357649(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43082565
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357649
ebirs80357649
HLIrs80357649
Exacrs80357649
Varsomers80357649
Maprs80357649
PheGenIrs80357649
hapmaprs80357649
1000 genomesrs80357649
hgdprs80357649
ensemblrs80357649
gopubmedrs80357649
geneviewrs80357649
scholarrs80357649
googlers80357649
pharmgkbrs80357649
gwascentralrs80357649
openSNPrs80357649
23andMers80357649
23andMe allrs80357649
SNP Nexus

SNPshotrs80357649
SNPdbers80357649
MSV3drs80357649
GWAS Ctlgrs80357649
Max Magnitude6
rs80357649, also known as 4314delAC, c.4195_4196delAC and p.Thr1399Hisfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357649(;)
Alt rs80357649(;)
Reference rs80357649(AC;AC)
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.41234582_41234583delGT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048482.2, RCV000112292.1,