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rs80357994

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;CATT) 6 BRCA1 variant considered pathogenic for breast cancer
(TTCA;TTCA) 0 common in clinvar
Make rs80357994(-;-)
Make rs80357994(CATT;CATT)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092512
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357994
ebirs80357994
HLIrs80357994
Exacrs80357994
Varsomers80357994
Maprs80357994
PheGenIrs80357994
hapmaprs80357994
1000 genomesrs80357994
hgdprs80357994
ensemblrs80357994
gopubmedrs80357994
geneviewrs80357994
scholarrs80357994
googlers80357994
pharmgkbrs80357994
gwascentralrs80357994
openSNPrs80357994
23andMers80357994
23andMe allrs80357994
SNP Nexus

SNPshotrs80357994
SNPdbers80357994
MSV3drs80357994
GWAS Ctlgrs80357994
Max Magnitude6
rs80357994, also known as 3135del4, c.3016_3019delCATT and p.His1006_Ser1007?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357994(;)
Alt rs80357994(;)
Reference rs80357994(TTCA;TTCA)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244527_41244530delTGAA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048042.2, RCV000111982.3,