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

rs80357772

From SNPedia

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


Make rs80357772(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094549
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357772
ebirs80357772
HLIrs80357772
Exacrs80357772
Varsomers80357772
Maprs80357772
PheGenIrs80357772
hapmaprs80357772
1000 genomesrs80357772
hgdprs80357772
ensemblrs80357772
gopubmedrs80357772
geneviewrs80357772
scholarrs80357772
googlers80357772
pharmgkbrs80357772
gwascentralrs80357772
openSNPrs80357772
23andMers80357772
23andMe allrs80357772
SNP Nexus

SNPshotrs80357772
SNPdbers80357772
MSV3drs80357772
GWAS Ctlgrs80357772
Max Magnitude6
rs80357772, also known as 1100delAT, c.981_982delAT and p.Thr327_Cys328ThrTerfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357772(;)
Alt rs80357772(;)
Reference rs80357772(AT;AT)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41246566_41246567delAT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049211.2, RCV000077636.4, RCV000162892.1,