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rs80359880

From SNPedia

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


Make rs80359880(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094439
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80359880
ebirs80359880
HLIrs80359880
Exacrs80359880
Varsomers80359880
Maprs80359880
PheGenIrs80359880
hapmaprs80359880
1000 genomesrs80359880
hgdprs80359880
ensemblrs80359880
gopubmedrs80359880
geneviewrs80359880
scholarrs80359880
googlers80359880
pharmgkbrs80359880
gwascentralrs80359880
openSNPrs80359880
23andMers80359880
23andMe allrs80359880
SNP Nexus

SNPshotrs80359880
SNPdbers80359880
MSV3drs80359880
GWAS Ctlgrs80359880
Max Magnitude6
rs80359880, also known as 1201del11, c.1082_1092del and p.Ser361_Pro364?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359880(;)
Alt rs80359880(;)
Reference rs80359880(CAGAGAATCCT;CAGAGAATCCT)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41246456_41246466delAGGATTCTCTG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047334.2, RCV000077481.4, RCV000165309.1,