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rs80357717

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 Normal
(-;AT) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357717(AT;AT)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092823
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357717
ebirs80357717
HLIrs80357717
Exacrs80357717
Varsomers80357717
Maprs80357717
PheGenIrs80357717
hapmaprs80357717
1000 genomesrs80357717
hgdprs80357717
ensemblrs80357717
gopubmedrs80357717
geneviewrs80357717
scholarrs80357717
googlers80357717
pharmgkbrs80357717
gwascentralrs80357717
openSNPrs80357717
23andMers80357717
23andMe allrs80357717
SNP Nexus

SNPshotrs80357717
SNPdbers80357717
MSV3drs80357717
GWAS Ctlgrs80357717
Max Magnitude6
rs80357717, also known as 2826insAT, c.2707_2708insAT and p.Cys903?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357717(AT;AT)
Alt rs80357717(AT;AT)
Reference rs80357717(;)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41244840_41244841insAT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031064.4, RCV000132203.2,