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rs80357868

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;GTCT) 6 BRCA1 variant considered pathogenic for breast cancer
(GTCT;GTCT) 0 Normal


Make rs80357868(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091772
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357868
ebirs80357868
HLIrs80357868
Exacrs80357868
Varsomers80357868
Maprs80357868
PheGenIrs80357868
hapmaprs80357868
1000 genomesrs80357868
hgdprs80357868
ensemblrs80357868
gopubmedrs80357868
geneviewrs80357868
scholarrs80357868
googlers80357868
pharmgkbrs80357868
gwascentralrs80357868
openSNPrs80357868
23andMers80357868
23andMe allrs80357868
SNP Nexus

SNPshotrs80357868
SNPdbers80357868
MSV3drs80357868
GWAS Ctlgrs80357868
Max Magnitude6
rs80357868, also known as 3875del4, c.3756_3759delGTCT and p.Leu1252_Ser1253?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357868(;)
Alt rs80357868(;)
Reference rs80357868(GTCT;GTCT)
Significance Pathogenic
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41243789_41243792delAGAC
CLNSRC Breast Cancer Information Core (BRCA1) Inc. OMIM Allelic Variant
CLNACC RCV000019242.13, RCV000048314.5, RCV000131810.3, RCV000167859.4, RCV000239051.1,