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rs80357770

From SNPedia

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


Make rs80357770(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094141
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357770
ebirs80357770
HLIrs80357770
Exacrs80357770
Varsomers80357770
Maprs80357770
PheGenIrs80357770
hapmaprs80357770
1000 genomesrs80357770
hgdprs80357770
ensemblrs80357770
gopubmedrs80357770
geneviewrs80357770
scholarrs80357770
googlers80357770
pharmgkbrs80357770
gwascentralrs80357770
openSNPrs80357770
23andMers80357770
23andMe allrs80357770
SNP Nexus

SNPshotrs80357770
SNPdbers80357770
MSV3drs80357770
GWAS Ctlgrs80357770
Max Magnitude6
rs80357770, also known as 1509delA, c.1390_1390delA and p.Thr464Profs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357770(;)
Alt rs80357770(;)
Reference rs80357770(A;A)
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.41246158delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047457.2, RCV000111604.2,