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rs80357820

From SNPedia

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


Make rs80357820(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093174
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357820
dbSNP (old)rs80357820
ClinGenrs80357820
ebirs80357820
HLIrs80357820
Exacrs80357820
Varsomers80357820
Maprs80357820
PheGenIrs80357820
Biobankrs80357820
1000 genomesrs80357820
hgdprs80357820
ensemblrs80357820
gopubmedrs80357820
geneviewrs80357820
scholarrs80357820
googlers80357820
pharmgkbrs80357820
gwascentralrs80357820
openSNPrs80357820
23andMers80357820
23andMe allrs80357820
SNP Nexus

SNPshotrs80357820
SNPdbers80357820
MSV3drs80357820
GWAS Ctlgrs80357820
Max Magnitude6
rs80357820, also known as 2470del7, c.2351_2357delCGTTACT and p.Ser784_Leu786?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357820(-;-)
Alt rs80357820(-;-)
Reference Rs80357820(CGTTACT;CGTTACT)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245191_41245197delAGTAACG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047810.2, RCV000111831.3,