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rs80357507

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AGAAG) 6 BRCA1 variant considered pathogenic for breast cancer
(GAGAA;GAGAA) 0 common in clinvar
Make rs80357507(-;-)
Make rs80357507(AGAAG;AGAAG)
ReferenceGRCh38 38.1/142
Chromosome17
Position43093334
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357507
ebirs80357507
HLIrs80357507
Exacrs80357507
Varsomers80357507
Maprs80357507
PheGenIrs80357507
hapmaprs80357507
1000 genomesrs80357507
hgdprs80357507
ensemblrs80357507
gopubmedrs80357507
geneviewrs80357507
scholarrs80357507
googlers80357507
pharmgkbrs80357507
gwascentralrs80357507
openSNPrs80357507
23andMers80357507
23andMe allrs80357507
SNP Nexus

SNPshotrs80357507
SNPdbers80357507
MSV3drs80357507
GWAS Ctlgrs80357507
Max Magnitude6
rs80357507, also known as 2312del5, c.2193_2197delAGAAG and p.Lys731_Glu733?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357507(;)
Alt rs80357507(;)
Reference rs80357507(GAGAA;GAGAA)
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.41245347_41245351delTTCTC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047754.3, RCV000111789.3,