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rs80357749

From SNPedia

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


Make rs80357749(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092510
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357749
ebirs80357749
HLIrs80357749
Exacrs80357749
Varsomers80357749
Maprs80357749
PheGenIrs80357749
hapmaprs80357749
1000 genomesrs80357749
hgdprs80357749
ensemblrs80357749
gopubmedrs80357749
geneviewrs80357749
scholarrs80357749
googlers80357749
pharmgkbrs80357749
gwascentralrs80357749
openSNPrs80357749
23andMers80357749
23andMe allrs80357749
SNP Nexus

SNPshotrs80357749
SNPdbers80357749
MSV3drs80357749
GWAS Ctlgrs80357749
Max Magnitude6
rs80357749, also known as 3137delTTCA, c.3018_3021delTTCA and p.His1006_Ser1007?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357749(;)
Alt rs80357749(;)
Reference rs80357749(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,