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rs80357698

From SNPedia

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


Make rs80357698(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093920
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357698
ebirs80357698
HLIrs80357698
Exacrs80357698
Varsomers80357698
Maprs80357698
PheGenIrs80357698
hapmaprs80357698
1000 genomesrs80357698
hgdprs80357698
ensemblrs80357698
gopubmedrs80357698
geneviewrs80357698
scholarrs80357698
googlers80357698
pharmgkbrs80357698
gwascentralrs80357698
openSNPrs80357698
23andMers80357698
23andMe allrs80357698
SNP Nexus

SNPshotrs80357698
SNPdbers80357698
MSV3drs80357698
GWAS Ctlgrs80357698
Max Magnitude6
rs80357698, also known as 1727del4, c.1608_1611delTAAC and p.Thr536_Asn537?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357698(;)
Alt rs80357698(;)
Reference rs80357698(TAAC;TAAC)
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.41245937_41245940delGTTA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047538.2, RCV000111653.1,