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rs80357906

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 Normal
(-;C) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357906(C;C)
ReferenceGRCh38 38.1/142
Chromosome17
Position43057065
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357906
ebirs80357906
HLIrs80357906
Exacrs80357906
Varsomers80357906
Maprs80357906
PheGenIrs80357906
hapmaprs80357906
1000 genomesrs80357906
hgdprs80357906
ensemblrs80357906
gopubmedrs80357906
geneviewrs80357906
scholarrs80357906
googlers80357906
pharmgkbrs80357906
gwascentralrs80357906
openSNPrs80357906
23andMers80357906
23andMe allrs80357906
SNP Nexus

SNPshotrs80357906
SNPdbers80357906
MSV3drs80357906
GWAS Ctlgrs80357906
Merged fromRs76171189
Max Magnitude6
rs80357906, also known as 5382insC, c.5263_5264insC and p.Ser1755?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357906(C;C)
Alt rs80357906(C;C)
Reference rs80357906(C;C)
Significance Other
Disease Breast-ovarian cancer Pancreatic cancer Familial cancer of breast Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Pancreatic cancer, susceptibility to Familial cancer of breast Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41209082dupG
CLNSRC Breast Cancer Information Core (BRCA1) Inc. OMIM Allelic Variant
CLNACC RCV000019246.16, RCV000019247.3, RCV000056287.6, RCV000119097.6, RCV000131328.3,