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rs421262

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(T;T) 0 common in clinvar
Make rs421262(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position87934869
GeneGALC
is asnp
is mentioned by
dbSNPrs421262
ebirs421262
HLIrs421262
Exacrs421262
Varsomers421262
Maprs421262
PheGenIrs421262
hapmaprs421262
1000 genomesrs421262
hgdprs421262
ensemblrs421262
gopubmedrs421262
geneviewrs421262
scholarrs421262
googlers421262
pharmgkbrs421262
gwascentralrs421262
openSNPrs421262
23andMers421262
23andMe allrs421262
SNP Nexus

SNPshotrs421262
SNPdbers421262
MSV3drs421262
GWAS Ctlgrs421262
GMAF0.06107
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene GALC
allele C
frequency
sift TOLERATED
HuRef 1103649121589
Disease Association Defects in GALC are the cause of globoid cell leukodystrophy (GLD) (MIM:245200); also known as Krabbe disease. This autosomal recessive disorder results in the insufficient catabolism of several galactolipids that are important in the production of normal myelin. Clinically, the most frequent form is the infantile form. Most patients (90%) present before six months of age with irritability, spasticity, arrest of motor and mental development, and bouts of temperature elevation without infection. This is followed by myoclonic jerks of arms and legs, oposthotonus, hypertonic fits, and mental regression, which progresses to a severe decerebrate condition with no voluntary movements and death from respiratory infections or cerebral hyperpyrexia before 2 years of age. However, a significant number of cases with later onset, presenting with unexplained blindness, weakness and/or progressive motor, and sensory neuropathy that can progress to severe mental incapacity and death, have been identified.



GET Evidence
GALC-T641A
aa_change Thr641Ala
aa_change_short T641A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.959498
summary



ClinVar
Risk rs421262(C;C)
Alt rs421262(C;C)
Reference rs421262(T;T)
Significance Non-pathogenic
Disease not specified
Variation info
Gene GALC
CLNDBN not specified
Reversed 0
HGVS NC_000014.8:g.88401213T>C
CLNSRC ClinVar Emory University
CLNACC RCV000078197.4,