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rs80357609

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;GTAAA) 6 BRCA1 variant considered pathogenic for breast cancer
(GTAAA;GTAAA) 0 Normal


Make rs80357609(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091827
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357609
ebirs80357609
HLIrs80357609
Exacrs80357609
Varsomers80357609
Maprs80357609
PheGenIrs80357609
hapmaprs80357609
1000 genomesrs80357609
hgdprs80357609
ensemblrs80357609
gopubmedrs80357609
geneviewrs80357609
scholarrs80357609
googlers80357609
pharmgkbrs80357609
gwascentralrs80357609
openSNPrs80357609
23andMers80357609
23andMe allrs80357609
SNP Nexus

SNPshotrs80357609
SNPdbers80357609
MSV3drs80357609
GWAS Ctlgrs80357609
Max Magnitude6
rs80357609, also known as 3819del5, c.3700_3704delGTAAA and p.Val1234_Asn1235?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357609(;)
Alt rs80357609(;)
Reference rs80357609(GTAAA;GTAAA)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41243844_41243848delTTTAC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031123.6, RCV000048287.3, RCV000131816.2, RCV000235915.1, RCV000238864.1,