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rs80357552

From SNPedia

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


Make rs80357552(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091818
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357552
ebirs80357552
HLIrs80357552
Exacrs80357552
Varsomers80357552
Maprs80357552
PheGenIrs80357552
hapmaprs80357552
1000 genomesrs80357552
hgdprs80357552
ensemblrs80357552
gopubmedrs80357552
geneviewrs80357552
scholarrs80357552
googlers80357552
pharmgkbrs80357552
gwascentralrs80357552
openSNPrs80357552
23andMers80357552
23andMe allrs80357552
SNP Nexus

SNPshotrs80357552
SNPdbers80357552
MSV3drs80357552
GWAS Ctlgrs80357552
Max Magnitude6
rs80357552, also known as 3825del8, c.3706_3713delAATATACC and p.Asn1236_Pro1238?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357552(;)
Alt rs80357552(;)
Reference rs80357552(AATATACC;AATATACC)
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.41243835_41243842delGGTATATT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048291.2, RCV000112158.1,