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

rs80357829

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 Normal
(-;AA) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357829(AA;AA)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092540
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357829
ebirs80357829
HLIrs80357829
Exacrs80357829
Varsomers80357829
Maprs80357829
PheGenIrs80357829
hapmaprs80357829
1000 genomesrs80357829
hgdprs80357829
ensemblrs80357829
gopubmedrs80357829
geneviewrs80357829
scholarrs80357829
googlers80357829
pharmgkbrs80357829
gwascentralrs80357829
openSNPrs80357829
23andMers80357829
23andMe allrs80357829
SNP Nexus

SNPshotrs80357829
SNPdbers80357829
MSV3drs80357829
GWAS Ctlgrs80357829
Max Magnitude6
rs80357829, also known as 3109insAA, c.2990_2991insAA and p.Asn997?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357829(AA;AA)
Alt rs80357829(AA;AA)
Reference rs80357829(;)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41244558_41244559dupTT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048030.2, RCV000143831.2, RCV000164310.1, RCV000237066.1,