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

rs80357640

From SNPedia

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


Make rs80357640(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093814
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357640
ebirs80357640
HLIrs80357640
Exacrs80357640
Varsomers80357640
Maprs80357640
PheGenIrs80357640
hapmaprs80357640
1000 genomesrs80357640
hgdprs80357640
ensemblrs80357640
gopubmedrs80357640
geneviewrs80357640
scholarrs80357640
googlers80357640
pharmgkbrs80357640
gwascentralrs80357640
openSNPrs80357640
23andMers80357640
23andMe allrs80357640
SNP Nexus

SNPshotrs80357640
SNPdbers80357640
MSV3drs80357640
GWAS Ctlgrs80357640
Max Magnitude6
rs80357640, also known as 1832del5, c.1713_1717delAGAAT and p.Ile571_Ser573?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357640(;)
Alt rs80357640(;)
Reference rs80357640(AGAAT;AGAAT)
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.41245831_41245835delATTCT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047566.2, RCV000077494.3,