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rs80357647

From SNPedia

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


Make rs80357647(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092437
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357647
ebirs80357647
HLIrs80357647
Exacrs80357647
Varsomers80357647
Maprs80357647
PheGenIrs80357647
hapmaprs80357647
1000 genomesrs80357647
hgdprs80357647
ensemblrs80357647
gopubmedrs80357647
geneviewrs80357647
scholarrs80357647
googlers80357647
pharmgkbrs80357647
gwascentralrs80357647
openSNPrs80357647
23andMers80357647
23andMe allrs80357647
SNP Nexus

SNPshotrs80357647
SNPdbers80357647
MSV3drs80357647
GWAS Ctlgrs80357647
Max Magnitude6
rs80357647, also known as 3203del11, c.3084_3094delTAATAACATTA and p.Arg1028_Arg1032?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357647(;)
Alt rs80357647(;)
Reference rs80357647(TAATAACATTA;TAATAACATTA)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41244454_41244464delTAATGTTATTA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048068.3, RCV000077537.3, RCV000213895.1,