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rs80357557

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;TA) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357557(-;-)
Make rs80357557(TA;TA)
ReferenceGRCh38 38.1/142
Chromosome17
Position43093274
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357557
ebirs80357557
HLIrs80357557
Exacrs80357557
Varsomers80357557
Maprs80357557
PheGenIrs80357557
hapmaprs80357557
1000 genomesrs80357557
hgdprs80357557
ensemblrs80357557
gopubmedrs80357557
geneviewrs80357557
scholarrs80357557
googlers80357557
pharmgkbrs80357557
gwascentralrs80357557
openSNPrs80357557
23andMers80357557
23andMe allrs80357557
SNP Nexus

SNPshotrs80357557
SNPdbers80357557
MSV3drs80357557
GWAS Ctlgrs80357557
Max Magnitude6
rs80357557, also known as 2375insTA, c.2256_2257insTA and p.Leu752_Ser753?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357557(TA;TA)
Alt rs80357557(TA;TA)
Reference rs80357557(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245291_41245292insTA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111809.1,