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rs80357613

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;ACTCCTG) 6 BRCA1 variant considered pathogenic for breast cancer
(CTCCTGA;CTCCTGA) 0 common in clinvar
Make rs80357613(-;-)
Make rs80357613(ACTCCTG;ACTCCTG)
ReferenceGRCh38 38.1/142
Chromosome17
Position43093943
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357613
ebirs80357613
HLIrs80357613
Exacrs80357613
Varsomers80357613
Maprs80357613
PheGenIrs80357613
hapmaprs80357613
1000 genomesrs80357613
hgdprs80357613
ensemblrs80357613
gopubmedrs80357613
geneviewrs80357613
scholarrs80357613
googlers80357613
pharmgkbrs80357613
gwascentralrs80357613
openSNPrs80357613
23andMers80357613
23andMe allrs80357613
SNP Nexus

SNPshotrs80357613
SNPdbers80357613
MSV3drs80357613
GWAS Ctlgrs80357613
Max Magnitude6
rs80357613, also known as 1701del7, c.1582_1588delACTCCTG and p.Thr528_Glu530?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357613(;)
Alt rs80357613(;)
Reference rs80357613(CTCCTGA;CTCCTGA)
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.41245959_41245965delTCAGGAG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047533.2, RCV000111651.1,