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rs80357718

From SNPedia

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


Make rs80357718(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43071198
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357718
ebirs80357718
HLIrs80357718
Exacrs80357718
Varsomers80357718
Maprs80357718
PheGenIrs80357718
hapmaprs80357718
1000 genomesrs80357718
hgdprs80357718
ensemblrs80357718
gopubmedrs80357718
geneviewrs80357718
scholarrs80357718
googlers80357718
pharmgkbrs80357718
gwascentralrs80357718
openSNPrs80357718
23andMers80357718
23andMe allrs80357718
SNP Nexus

SNPshotrs80357718
SNPdbers80357718
MSV3drs80357718
GWAS Ctlgrs80357718
Max Magnitude6
rs80357718, also known as 4831del5, c.4712_4716delTCTCT and p.Phe1571_Ser1572?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357718(;)
Alt rs80357718(;)
Reference rs80357718(TCTCT;TCTCT)
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.41223215_41223219delAGAGA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048640.2, RCV000083210.3,