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rs587777149

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 8 inherited CD59 deficiency
(-;T) 4 unaffected carrier of an inherited CD59 deficiency allele
(A;A) 8 inherited C59 deficiency
(A;T) 4 unaffected carrier of an inherited C59 deficiency allele
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/142
Chromosome11
Position33717393
GeneCD59
is asnp
is mentioned by
dbSNPrs587777149
ebirs587777149
HLIrs587777149
Exacrs587777149
Varsomers587777149
Maprs587777149
PheGenIrs587777149
hapmaprs587777149
1000 genomesrs587777149
hgdprs587777149
ensemblrs587777149
gopubmedrs587777149
geneviewrs587777149
scholarrs587777149
googlers587777149
pharmgkbrs587777149
gwascentralrs587777149
openSNPrs587777149
23andMers587777149
23andMe allrs587777149
SNP Nexus

SNPshotrs587777149
SNPdbers587777149
MSV3drs587777149
GWAS Ctlgrs587777149
Max Magnitude8

rs587777149 is a SNP in the CD59 gene. Both a missense mutation and a deletion mutation have been observed at this SNP, and both are reported as recessive mutations.

The deletion mutation was originally observed in a 7 month old baby with inherited CD59 deficiency, who went on to develop hemolytic anemia with progressive neurologic deterioration. She improved after treatment with the anti-C5 monoclonal antibody eculizumab. Her parents were both unaffected heterozygotes.[PMID 24382084] See also OMIM 107271.0003

The missense mutation consists of a T>A change (plus strand orientation). This change was found in a multiplex family with strokes, chronic immune-mediated peripheral neuropathy, and hemolysis, all with onset in infancy. Heterozygotes were unaffected.[PMID 25716358]


ClinVar
Risk rs587777149(TT,T;TT,T)
Alt rs587777149(TT,T;TT,T)
Reference rs587777149(AT;AT)
Significance Pathogenic
Disease Cd59 deficiency
Variation info
Gene CD59
CLNDBN Cd59 deficiency
Reversed 1
HGVS NC_000011.9:g.33738939delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000087130.3,