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

rs80357618

From SNPedia

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


Make rs80357618(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094515
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357618
ebirs80357618
HLIrs80357618
Exacrs80357618
Varsomers80357618
Maprs80357618
PheGenIrs80357618
hapmaprs80357618
1000 genomesrs80357618
hgdprs80357618
ensemblrs80357618
gopubmedrs80357618
geneviewrs80357618
scholarrs80357618
googlers80357618
pharmgkbrs80357618
gwascentralrs80357618
openSNPrs80357618
23andMers80357618
23andMe allrs80357618
SNP Nexus

SNPshotrs80357618
SNPdbers80357618
MSV3drs80357618
GWAS Ctlgrs80357618
Max Magnitude6
rs80357618, also known as 1135delA, c.1016_1016delA and p.Lys339Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357618(;)
Alt rs80357618(;)
Reference rs80357618(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41246532delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000030967.6, RCV000047309.2, RCV000222143.1,