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rs80357963

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;TGTC) 6 BRCA1 variant considered pathogenic for breast cancer
(GTCT;GTCT) 0 common in clinvar
Make rs80357963(-;-)
Make rs80357963(TGTC;TGTC)
ReferenceGRCh38 38.1/142
Chromosome17
Position43091773
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357963
ebirs80357963
HLIrs80357963
Exacrs80357963
Varsomers80357963
Maprs80357963
PheGenIrs80357963
hapmaprs80357963
1000 genomesrs80357963
hgdprs80357963
ensemblrs80357963
gopubmedrs80357963
geneviewrs80357963
scholarrs80357963
googlers80357963
pharmgkbrs80357963
gwascentralrs80357963
openSNPrs80357963
23andMers80357963
23andMe allrs80357963
SNP Nexus

SNPshotrs80357963
SNPdbers80357963
MSV3drs80357963
GWAS Ctlgrs80357963
Max Magnitude6
rs80357963, also known as 3874del4, c.3755_3758delTGTC and p.Leu1252_Ser1253?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357963(;)
Alt rs80357963(;)
Reference rs80357963(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,