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

rs80357253

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common/normal
(A;T) 6 BRCA1 mutation considered pathogenic for breast cancer
Make rs80357253(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position43094309
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357253
dbSNP (classic)rs80357253
ClinGenrs80357253
ebirs80357253
HLIrs80357253
Exacrs80357253
Gnomadrs80357253
Varsomers80357253
LitVarrs80357253
Maprs80357253
PheGenIrs80357253
Biobankrs80357253
1000 genomesrs80357253
hgdprs80357253
ensemblrs80357253
geneviewrs80357253
scholarrs80357253
googlers80357253
pharmgkbrs80357253
gwascentralrs80357253
openSNPrs80357253
23andMers80357253
23andMe allrs80357253
SNPshotrs80357253
SNPdbers80357253
MSV3drs80357253
GWAS Ctlgrs80357253
Max Magnitude6

BRCA1, c.1222A>T (p.Lys408Ter)

ClinVar
Risk rs80357253(G;G) rs80357253(T;T)
Alt rs80357253(G;G) rs80357253(T;T)
Reference Rs80357253(A;A)
Significance Other
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified
Reversed 1
HGVS NC_000017.10:g.41246326T>A; NC_000017.10:g.41246326T>C
CLNSRC
CLNACC RCV000256923.2, RCV000030980.5, RCV000047382.3, RCV000130521.2, RCV000426822.1,