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rs80357914

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;AG) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357914(-;-)
Make rs80357914(AG;AG)
ReferenceGRCh38 38.1/142
Chromosome17
Position43124027
GeneBRCA1, NBR2
is asnp
is mentioned by
dbSNPrs80357914
ebirs80357914
HLIrs80357914
Exacrs80357914
Varsomers80357914
Maprs80357914
PheGenIrs80357914
hapmaprs80357914
1000 genomesrs80357914
hgdprs80357914
ensemblrs80357914
gopubmedrs80357914
geneviewrs80357914
scholarrs80357914
googlers80357914
pharmgkbrs80357914
gwascentralrs80357914
openSNPrs80357914
23andMers80357914
23andMe allrs80357914
SNP Nexus

SNPshotrs80357914
SNPdbers80357914
MSV3drs80357914
GWAS Ctlgrs80357914
Max Magnitude6
rs80357914, also known as 188insAG, c.68_69insAG and p.Glu23_Cys24?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357914(AG;AG)
Alt rs80357914(AG;AG)
Reference rs80357914(;)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene NBR2 BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41276045_41276046dupCT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049096.2, RCV000143834.2, RCV000223371.1,