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rs80357920

From SNPedia

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


Make rs80357920(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092419
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357920
ebirs80357920
HLIrs80357920
Exacrs80357920
Varsomers80357920
Maprs80357920
PheGenIrs80357920
hapmaprs80357920
1000 genomesrs80357920
hgdprs80357920
ensemblrs80357920
gopubmedrs80357920
geneviewrs80357920
scholarrs80357920
googlers80357920
pharmgkbrs80357920
gwascentralrs80357920
openSNPrs80357920
23andMers80357920
23andMe allrs80357920
SNP Nexus

SNPshotrs80357920
SNPdbers80357920
MSV3drs80357920
GWAS Ctlgrs80357920
Max Magnitude6
rs80357920, also known as 3226del6, c.3107_3112delTTAAAG and p.Phe1036_Glu1038?, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357920(;)
Alt rs80357920(;)
Reference rs80357920(TTAAAG;TTAAAG)
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.41244436_41244441delCTTTAA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048070.2, RCV000111999.1,