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rs80357696

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;GTGTCCCATCT) 6 BRCA1 variant considered pathogenic for breast cancer
(TGTCCCATCTG;TGTCCCATCTG) 0 common in clinvar
Make rs80357696(-;-)
Make rs80357696(GTGTCCCATCT;GTGTCCCATCT)
ReferenceGRCh38 38.1/142
Chromosome17
Position43124018
GeneBRCA1, NBR2
is asnp
is mentioned by
dbSNPrs80357696
ebirs80357696
HLIrs80357696
Exacrs80357696
Varsomers80357696
Maprs80357696
PheGenIrs80357696
hapmaprs80357696
1000 genomesrs80357696
hgdprs80357696
ensemblrs80357696
gopubmedrs80357696
geneviewrs80357696
scholarrs80357696
googlers80357696
pharmgkbrs80357696
gwascentralrs80357696
openSNPrs80357696
23andMers80357696
23andMe allrs80357696
SNP Nexus

SNPshotrs80357696
SNPdbers80357696
MSV3drs80357696
GWAS Ctlgrs80357696
Max Magnitude6
rs80357696, also known as 188del11, c.69_79delGTGTCCCATCT and p.Glu23_Cys27?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357696(;)
Alt rs80357696(;)
Reference rs80357696(TGTCCCATCTG;TGTCCCATCTG)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene NBR2 BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41276034_41276044delCAGATGGGACA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049106.3, RCV000111682.2, RCV000131391.2,