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rs80357633

From SNPedia

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


Make rs80357633(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43124023
GeneBRCA1, NBR2
is asnp
is mentioned by
dbSNPrs80357633
ebirs80357633
HLIrs80357633
Exacrs80357633
Varsomers80357633
Maprs80357633
PheGenIrs80357633
hapmaprs80357633
1000 genomesrs80357633
hgdprs80357633
ensemblrs80357633
gopubmedrs80357633
geneviewrs80357633
scholarrs80357633
googlers80357633
pharmgkbrs80357633
gwascentralrs80357633
openSNPrs80357633
23andMers80357633
23andMe allrs80357633
SNP Nexus

SNPshotrs80357633
SNPdbers80357633
MSV3drs80357633
GWAS Ctlgrs80357633
Max Magnitude6
rs80357633, also known as 192delCC, c.73_74delCC and p.Pro25Hisfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357633(;)
Alt rs80357633(;)
Reference rs80357633(CC;CC)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene NBR2 BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41276040_41276041delGG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049116.2, RCV000111689.1,