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

rs80357604

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 Normal
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357604(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43104233
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357604
ebirs80357604
HLIrs80357604
Exacrs80357604
Varsomers80357604
Maprs80357604
PheGenIrs80357604
hapmaprs80357604
1000 genomesrs80357604
hgdprs80357604
ensemblrs80357604
gopubmedrs80357604
geneviewrs80357604
scholarrs80357604
googlers80357604
pharmgkbrs80357604
gwascentralrs80357604
openSNPrs80357604
23andMers80357604
23andMe allrs80357604
SNP Nexus

SNPshotrs80357604
SNPdbers80357604
MSV3drs80357604
GWAS Ctlgrs80357604
Max Magnitude6
rs80357604, also known as 448insA, c.329_330insA and p.Lys110?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357604(A;A)
Alt rs80357604(A;A)
Reference rs80357604(;)
Significance Pathogenic
Disease Breast-ovarian cancer not provided Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 not provided Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41256251dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031101.5, RCV000048132.5, RCV000195362.1, RCV000239071.1,