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rs80359881

From SNPedia

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


Make rs80359881(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093877
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80359881
ebirs80359881
HLIrs80359881
Exacrs80359881
Varsomers80359881
Maprs80359881
PheGenIrs80359881
hapmaprs80359881
1000 genomesrs80359881
hgdprs80359881
ensemblrs80359881
gopubmedrs80359881
geneviewrs80359881
scholarrs80359881
googlers80359881
pharmgkbrs80359881
gwascentralrs80359881
openSNPrs80359881
23andMers80359881
23andMe allrs80359881
SNP Nexus

SNPshotrs80359881
SNPdbers80359881
MSV3drs80359881
GWAS Ctlgrs80359881
Max Magnitude6
rs80359881, also known as 1755del19, c.1636_1654del and p.Met546_Gly552?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359881(;)
Alt rs80359881(;)
Reference rs80359881(ATGAATATTACTAATAGTG;ATGAATATTACTAATAGTG)
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.41245894_41245912del19
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047547.2, RCV000111657.1,