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rs80357570

From SNPedia

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


Make rs80357570(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094207
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357570
ebirs80357570
HLIrs80357570
Exacrs80357570
Varsomers80357570
Maprs80357570
PheGenIrs80357570
hapmaprs80357570
1000 genomesrs80357570
hgdprs80357570
ensemblrs80357570
gopubmedrs80357570
geneviewrs80357570
scholarrs80357570
googlers80357570
pharmgkbrs80357570
gwascentralrs80357570
openSNPrs80357570
23andMers80357570
23andMe allrs80357570
SNP Nexus

SNPshotrs80357570
SNPdbers80357570
MSV3drs80357570
GWAS Ctlgrs80357570
Max Magnitude6
rs80357570, also known as 1442delAT, c.1323_1324delAT and p.Ile441_Cys442MetTerfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357570(;)
Alt rs80357570(;)
Reference rs80357570(AT;AT)
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.41246224_41246225delAT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047419.2, RCV000083169.3,