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rs80357607

From SNPedia

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


Make rs80357607(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093016
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357607
ebirs80357607
HLIrs80357607
Exacrs80357607
Varsomers80357607
Maprs80357607
PheGenIrs80357607
hapmaprs80357607
1000 genomesrs80357607
hgdprs80357607
ensemblrs80357607
gopubmedrs80357607
geneviewrs80357607
scholarrs80357607
googlers80357607
pharmgkbrs80357607
gwascentralrs80357607
openSNPrs80357607
23andMers80357607
23andMe allrs80357607
SNP Nexus

SNPshotrs80357607
SNPdbers80357607
MSV3drs80357607
GWAS Ctlgrs80357607
Max Magnitude6
rs80357607, also known as 2634delC, c.2515_2515delC and p.His839Thrfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357607(;)
Alt rs80357607(;)
Reference rs80357607(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41245033delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031055.5, RCV000047864.2, RCV000131999.2, RCV000236698.1,