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rs80357924

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AACT) 6 BRCA1 variant considered pathogenic for breast cancer
(CTAA;CTAA) 0 common in clinvar
Make rs80357924(-;-)
Make rs80357924(AACT;AACT)
ReferenceGRCh38 38.1/142
Chromosome17
Position43067651
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357924
ebirs80357924
HLIrs80357924
Exacrs80357924
Varsomers80357924
Maprs80357924
PheGenIrs80357924
hapmaprs80357924
1000 genomesrs80357924
hgdprs80357924
ensemblrs80357924
gopubmedrs80357924
geneviewrs80357924
scholarrs80357924
googlers80357924
pharmgkbrs80357924
gwascentralrs80357924
openSNPrs80357924
23andMers80357924
23andMe allrs80357924
SNP Nexus

SNPshotrs80357924
SNPdbers80357924
MSV3drs80357924
GWAS Ctlgrs80357924
Max Magnitude6
rs80357924, also known as 5147del4, c.5028_5031delAACT and p.Leu1676_Thr1677?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357924(;)
Alt rs80357924(;)
Reference rs80357924(CTAA;CTAA)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41219666_41219669delTTAG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031204.7, RCV000048741.4, RCV000162882.1, RCV000236835.1,