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rs80359877

From SNPedia

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


Make rs80359877(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43124017
GeneBRCA1, NBR2
is asnp
is mentioned by
dbSNPrs80359877
ebirs80359877
HLIrs80359877
Exacrs80359877
Varsomers80359877
Maprs80359877
PheGenIrs80359877
hapmaprs80359877
1000 genomesrs80359877
hgdprs80359877
ensemblrs80359877
gopubmedrs80359877
geneviewrs80359877
scholarrs80359877
googlers80359877
pharmgkbrs80359877
gwascentralrs80359877
openSNPrs80359877
23andMers80359877
23andMe allrs80359877
SNP Nexus

SNPshotrs80359877
SNPdbers80359877
MSV3drs80359877
GWAS Ctlgrs80359877
Max Magnitude6
rs80359877, also known as 189del11, c.70_80del and p.Cys24_Cys27?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359877(;)
Alt rs80359877(;)
Reference rs80359877(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,