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rs80357508

From SNPedia

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


Make rs80357508(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091463
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357508
ebirs80357508
HLIrs80357508
Exacrs80357508
Varsomers80357508
Maprs80357508
PheGenIrs80357508
hapmaprs80357508
1000 genomesrs80357508
hgdprs80357508
ensemblrs80357508
gopubmedrs80357508
geneviewrs80357508
scholarrs80357508
googlers80357508
pharmgkbrs80357508
gwascentralrs80357508
openSNPrs80357508
23andMers80357508
23andMe allrs80357508
SNP Nexus

SNPshotrs80357508
SNPdbers80357508
MSV3drs80357508
GWAS Ctlgrs80357508
Max Magnitude6
rs80357508, also known as 4184del4, c.4065_4068delTCAA and p.Asn1355_Gln1356?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357508(;)
Alt rs80357508(;)
Reference rs80357508(TCAA;TCAA)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided not specified
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided not specified
Reversed 1
HGVS NC_000017.10:g.41243480_41243483delTTGA
CLNSRC Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC RCV000019243.12, RCV000048431.6, RCV000131887.2, RCV000159924.2, RCV000238776.1,