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

rs80357821

From SNPedia

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


Make rs80357821(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094404
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357821
ebirs80357821
HLIrs80357821
Exacrs80357821
Varsomers80357821
Maprs80357821
PheGenIrs80357821
hapmaprs80357821
1000 genomesrs80357821
hgdprs80357821
ensemblrs80357821
gopubmedrs80357821
geneviewrs80357821
scholarrs80357821
googlers80357821
pharmgkbrs80357821
gwascentralrs80357821
openSNPrs80357821
23andMers80357821
23andMe allrs80357821
SNP Nexus

SNPshotrs80357821
SNPdbers80357821
MSV3drs80357821
GWAS Ctlgrs80357821
Max Magnitude6
rs80357821, also known as 1246delA, c.1127_1127delA and p.Asn376Ilefs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357821(;)
Alt rs80357821(;)
Reference rs80357821(A;A)
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.41246421delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047354.2, RCV000111557.1, RCV000129494.2,