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rs80357797

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;TTCC) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357797(-;-)
Make rs80357797(TTCC;TTCC)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091859
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357797
ebirs80357797
HLIrs80357797
Exacrs80357797
Varsomers80357797
Maprs80357797
PheGenIrs80357797
hapmaprs80357797
1000 genomesrs80357797
hgdprs80357797
ensemblrs80357797
gopubmedrs80357797
geneviewrs80357797
scholarrs80357797
googlers80357797
pharmgkbrs80357797
gwascentralrs80357797
openSNPrs80357797
23andMers80357797
23andMe allrs80357797
SNP Nexus

SNPshotrs80357797
SNPdbers80357797
MSV3drs80357797
GWAS Ctlgrs80357797
Max Magnitude6
rs80357797, also known as 3790ins4, c.3671_3672insTTCC and p.Pro1224?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357797(TTCC;TTCC)
Alt rs80357797(TTCC;TTCC)
Reference rs80357797(;)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41243877_41243880dupGGAA
CLNSRC
CLNACC RCV000048279.2,