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rs80357707

From SNPedia

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


Make rs80357707(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094737
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357707
ebirs80357707
HLIrs80357707
Exacrs80357707
Varsomers80357707
Maprs80357707
PheGenIrs80357707
hapmaprs80357707
1000 genomesrs80357707
hgdprs80357707
ensemblrs80357707
gopubmedrs80357707
geneviewrs80357707
scholarrs80357707
googlers80357707
pharmgkbrs80357707
gwascentralrs80357707
openSNPrs80357707
23andMers80357707
23andMe allrs80357707
SNP Nexus

SNPshotrs80357707
SNPdbers80357707
MSV3drs80357707
GWAS Ctlgrs80357707
Max Magnitude6
rs80357707, also known as 910del4, c.791_794delGTTC and p.Ser264_Ser265?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357707(;)
Alt rs80357707(;)
Reference rs80357707(GTTC;GTTC)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41246754_41246757delGAAC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049137.2, RCV000112786.1, RCV000215273.1,