Have questions? Visit https://www.reddit.com/r/SNPedia

rs80357560

From SNPedia

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


Make rs80357560(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43091660
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357560
ebirs80357560
HLIrs80357560
Exacrs80357560
Varsomers80357560
Maprs80357560
PheGenIrs80357560
hapmaprs80357560
1000 genomesrs80357560
hgdprs80357560
ensemblrs80357560
gopubmedrs80357560
geneviewrs80357560
scholarrs80357560
googlers80357560
pharmgkbrs80357560
gwascentralrs80357560
openSNPrs80357560
23andMers80357560
23andMe allrs80357560
SNP Nexus

SNPshotrs80357560
SNPdbers80357560
MSV3drs80357560
GWAS Ctlgrs80357560
Max Magnitude6
rs80357560, also known as 3986del5, c.3867_3871delAAAAT and p.Thr1289_Cys1291?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357560(;)
Alt rs80357560(;)
Reference rs80357560(AAAAT;AAAAT)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41243677_41243681delATTTT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112205.1,