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rs80357623

From SNPedia

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


Make rs80357623(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43067643
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357623
ebirs80357623
HLIrs80357623
Exacrs80357623
Varsomers80357623
Maprs80357623
PheGenIrs80357623
hapmaprs80357623
1000 genomesrs80357623
hgdprs80357623
ensemblrs80357623
gopubmedrs80357623
geneviewrs80357623
scholarrs80357623
googlers80357623
pharmgkbrs80357623
gwascentralrs80357623
openSNPrs80357623
23andMers80357623
23andMe allrs80357623
SNP Nexus

SNPshotrs80357623
SNPdbers80357623
MSV3drs80357623
GWAS Ctlgrs80357623
Max Magnitude6
rs80357623, also known as 5154del5, c.5035_5039delCTAAT and p.Leu1679_Ile1680?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357623(;)
Alt rs80357623(;)
Reference rs80357623(CTAAT;CTAAT)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41219660_41219664delATTAG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031205.5, RCV000048742.2,