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rs80357894

From SNPedia

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


Make rs80357894(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43067646
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357894
ebirs80357894
HLIrs80357894
Exacrs80357894
Varsomers80357894
Maprs80357894
PheGenIrs80357894
hapmaprs80357894
1000 genomesrs80357894
hgdprs80357894
ensemblrs80357894
gopubmedrs80357894
geneviewrs80357894
scholarrs80357894
googlers80357894
pharmgkbrs80357894
gwascentralrs80357894
openSNPrs80357894
23andMers80357894
23andMe allrs80357894
SNP Nexus

SNPshotrs80357894
SNPdbers80357894
MSV3drs80357894
GWAS Ctlgrs80357894
Max Magnitude6
rs80357894, also known as 5145del11, c.5026_5036delTTAACTAATCT and p.Leu1676_Leu1679?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357894(;)
Alt rs80357894(;)
Reference rs80357894(TTAACTAATCT;TTAACTAATCT)
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.41219663_41219673delAGATTAGTTAA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048739.2, RCV000112465.1,