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rs80357819

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;TCATC) 6 BRCA1 variant considered pathogenic for breast cancer
(TCTCA;TCTCA) 0 common in clinvar
Make rs80357819(-;-)
Make rs80357819(TCATC;TCATC)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092664
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357819
ebirs80357819
HLIrs80357819
Exacrs80357819
Varsomers80357819
Maprs80357819
PheGenIrs80357819
hapmaprs80357819
1000 genomesrs80357819
hgdprs80357819
ensemblrs80357819
gopubmedrs80357819
geneviewrs80357819
scholarrs80357819
googlers80357819
pharmgkbrs80357819
gwascentralrs80357819
openSNPrs80357819
23andMers80357819
23andMe allrs80357819
SNP Nexus

SNPshotrs80357819
SNPdbers80357819
MSV3drs80357819
GWAS Ctlgrs80357819
Max Magnitude6
rs80357819, also known as 2982del5, c.2863_2867delTCATC and p.Ser955_Ser956?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357819(;)
Alt rs80357819(;)
Reference rs80357819(TCTCA;TCTCA)
Significance Pathogenic
Disease not provided Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN not provided Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41244678_41244682delTGAGA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047993.5, RCV000111951.3, RCV000195360.1, RCV000239021.1,