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rs80359885

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;CAGAAAAGTAGTGAATA) 6 BRCA1 variant considered pathogenic for breast cancer
(AGAAAAGTAGTGAATAC;AGAAAAGTAGTGAATAC) 0 common in clinvar
Make rs80359885(-;-)
Make rs80359885(CAGAAAAGTAGTGAATA;CAGAAAAGTAGTGAATA)
ReferenceGRCh38 38.1/142
Chromosome17
Position43076584
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80359885
ebirs80359885
HLIrs80359885
Exacrs80359885
Varsomers80359885
Maprs80359885
PheGenIrs80359885
hapmaprs80359885
1000 genomesrs80359885
hgdprs80359885
ensemblrs80359885
gopubmedrs80359885
geneviewrs80359885
scholarrs80359885
googlers80359885
pharmgkbrs80359885
gwascentralrs80359885
openSNPrs80359885
23andMers80359885
23andMe allrs80359885
SNP Nexus

SNPshotrs80359885
SNPdbers80359885
MSV3drs80359885
GWAS Ctlgrs80359885
Max Magnitude6
rs80359885, also known as 4491del17, c.4372_4388del and p.Gln1458_Tyr1463?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359885(;)
Alt rs80359885(;)
Reference rs80359885(AGAAAAGTAGTGAATAC;AGAAAAGTAGTGAATAC)
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.41228600_41228616del17
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048541.2, RCV000112329.1,