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rs80357935

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;ATCT) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357935(-;-)
Make rs80357935(ATCT;ATCT)
ReferenceGRCh38 38.1/142
Chromosome17
Position43091017
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357935
ebirs80357935
HLIrs80357935
Exacrs80357935
Varsomers80357935
Maprs80357935
PheGenIrs80357935
hapmaprs80357935
1000 genomesrs80357935
hgdprs80357935
ensemblrs80357935
gopubmedrs80357935
geneviewrs80357935
scholarrs80357935
googlers80357935
pharmgkbrs80357935
gwascentralrs80357935
openSNPrs80357935
23andMers80357935
23andMe allrs80357935
SNP Nexus

SNPshotrs80357935
SNPdbers80357935
MSV3drs80357935
GWAS Ctlgrs80357935
Max Magnitude6
rs80357935, also known as 4230ins4, c.4111_4112insATCT and p.Gly1371?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357935(ATCT;ATCT)
Alt rs80357935(ATCT;ATCT)
Reference rs80357935(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41243034_41243035insAGAT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112261.1,