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

rs80357854

From SNPedia

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


Make rs80357854(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43076489
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357854
ebirs80357854
HLIrs80357854
Exacrs80357854
Varsomers80357854
Maprs80357854
PheGenIrs80357854
hapmaprs80357854
1000 genomesrs80357854
hgdprs80357854
ensemblrs80357854
gopubmedrs80357854
geneviewrs80357854
scholarrs80357854
googlers80357854
pharmgkbrs80357854
gwascentralrs80357854
openSNPrs80357854
23andMers80357854
23andMe allrs80357854
SNP Nexus

SNPshotrs80357854
SNPdbers80357854
MSV3drs80357854
GWAS Ctlgrs80357854
Max Magnitude6
rs80357854, also known as 4601delAA, c.4482_4483delAA and p.Glu1494_Arg1495GluValfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357854(;)
Alt rs80357854(;)
Reference rs80357854(AA;AA)
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.41228506_41228507delTT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031176.4, RCV000048570.2,