Have questions? Visit https://www.reddit.com/r/SNPedia

rs80357910

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AGGAAGATACT) 6 BRCA1 variant considered pathogenic for breast cancer
(GAAGATACTAG;GAAGATACTAG) 0 common in clinvar
Make rs80357910(-;-)
Make rs80357910(AGGAAGATACT;AGGAAGATACT)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092042
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357910
ebirs80357910
HLIrs80357910
Exacrs80357910
Varsomers80357910
Maprs80357910
PheGenIrs80357910
hapmaprs80357910
1000 genomesrs80357910
hgdprs80357910
ensemblrs80357910
gopubmedrs80357910
geneviewrs80357910
scholarrs80357910
googlers80357910
pharmgkbrs80357910
gwascentralrs80357910
openSNPrs80357910
23andMers80357910
23andMe allrs80357910
SNP Nexus

SNPshotrs80357910
SNPdbers80357910
MSV3drs80357910
GWAS Ctlgrs80357910
Max Magnitude6
rs80357910, also known as 3598del11, c.3479_3489delAGGAAGATACT and p.Lys1160_Thr1163?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357910(;)
Alt rs80357910(;)
Reference rs80357910(GAAGATACTAG;GAAGATACTAG)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41244057_41244067delCTAGTATCTTC
CLNSRC Breast Cancer Information Core (BRCA1) Inc. OMIM Allelic Variant
CLNACC RCV000019254.13, RCV000048211.5, RCV000131815.3, RCV000159917.1,