Have questions? Visit https://www.reddit.com/r/SNPedia

rs80357555

From SNPedia

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


Make rs80357555(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094578
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357555
ebirs80357555
HLIrs80357555
Exacrs80357555
Varsomers80357555
Maprs80357555
PheGenIrs80357555
hapmaprs80357555
1000 genomesrs80357555
hgdprs80357555
ensemblrs80357555
gopubmedrs80357555
geneviewrs80357555
scholarrs80357555
googlers80357555
pharmgkbrs80357555
gwascentralrs80357555
openSNPrs80357555
23andMers80357555
23andMe allrs80357555
SNP Nexus

SNPshotrs80357555
SNPdbers80357555
MSV3drs80357555
GWAS Ctlgrs80357555
Max Magnitude6
rs80357555, also known as 1068del5, c.949_953delCAACA and p.Gln317_His318?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357555(;)
Alt rs80357555(;)
Reference rs80357555(CAACA;CAACA)
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.41246595_41246599delTGTTG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049200.2, RCV000111515.1,