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rs80357967

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;TAACATTAGAGAAA) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357967(-;-)
Make rs80357967(TAACATTAGAGAAA;TAACATTAGAGAAA)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092430
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357967
ebirs80357967
HLIrs80357967
Exacrs80357967
Varsomers80357967
Maprs80357967
PheGenIrs80357967
hapmaprs80357967
1000 genomesrs80357967
hgdprs80357967
ensemblrs80357967
gopubmedrs80357967
geneviewrs80357967
scholarrs80357967
googlers80357967
pharmgkbrs80357967
gwascentralrs80357967
openSNPrs80357967
23andMers80357967
23andMe allrs80357967
SNP Nexus

SNPshotrs80357967
SNPdbers80357967
MSV3drs80357967
GWAS Ctlgrs80357967
Max Magnitude6
rs80357967, also known as 3219ins14, c.3100_3101insTAACATTAGAGAAA and p.Asn1034?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357967(TAACATTAGAGAAA;TAACATTAGAGAAA)
Alt rs80357967(TAACATTAGAGAAA;TAACATTAGAGAAA)
Reference rs80357967(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244447_41244448insTTTCTCTAATGTTA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111997.1,