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rs80357675

From SNPedia

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


Make rs80357675(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092938
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357675
ebirs80357675
HLIrs80357675
Exacrs80357675
Varsomers80357675
Maprs80357675
PheGenIrs80357675
hapmaprs80357675
1000 genomesrs80357675
hgdprs80357675
ensemblrs80357675
gopubmedrs80357675
geneviewrs80357675
scholarrs80357675
googlers80357675
pharmgkbrs80357675
gwascentralrs80357675
openSNPrs80357675
23andMers80357675
23andMe allrs80357675
SNP Nexus

SNPshotrs80357675
SNPdbers80357675
MSV3drs80357675
GWAS Ctlgrs80357675
Max Magnitude6
rs80357675, also known as 2705del8, c.2586_2593delGGTTTCAA and p.Lys862_Lys865?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357675(;)
Alt rs80357675(;)
Reference rs80357675(GGTTTCAA;GGTTTCAA)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244955_41244962delTTGAAACC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111896.1,