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

rs80357825

From SNPedia

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


Make rs80357825(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43082423
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357825
ebirs80357825
HLIrs80357825
Exacrs80357825
Varsomers80357825
Maprs80357825
PheGenIrs80357825
hapmaprs80357825
1000 genomesrs80357825
hgdprs80357825
ensemblrs80357825
gopubmedrs80357825
geneviewrs80357825
scholarrs80357825
googlers80357825
pharmgkbrs80357825
gwascentralrs80357825
openSNPrs80357825
23andMers80357825
23andMe allrs80357825
SNP Nexus

SNPshotrs80357825
SNPdbers80357825
MSV3drs80357825
GWAS Ctlgrs80357825
Max Magnitude6
rs80357825, also known as 4450del8, c.4331_4338delATCCAGAA and p.Asn1444_Glu1446?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357825(;)
Alt rs80357825(;)
Reference rs80357825(ATCCAGAA;ATCCAGAA)
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.41234440_41234447delTTCTGGAT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048526.2, RCV000112318.1,