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

rs80357978

From SNPedia

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


Make rs80357978(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094195
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357978
ebirs80357978
HLIrs80357978
Exacrs80357978
Varsomers80357978
Maprs80357978
PheGenIrs80357978
hapmaprs80357978
1000 genomesrs80357978
hgdprs80357978
ensemblrs80357978
gopubmedrs80357978
geneviewrs80357978
scholarrs80357978
googlers80357978
pharmgkbrs80357978
gwascentralrs80357978
openSNPrs80357978
23andMers80357978
23andMe allrs80357978
SNP Nexus

SNPshotrs80357978
SNPdbers80357978
MSV3drs80357978
GWAS Ctlgrs80357978
Max Magnitude6
rs80357978, also known as 1454delAA, c.1335_1336delAA and p.Glu445_Arg446GluSerfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357978(;)
Alt rs80357978(;)
Reference rs80357978(AA;AA)
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.41246212_41246213delTT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047423.2, RCV000111591.1,