|
rs151173406
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs28939378
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.
|
27172925 |
2016 |
|
rs28939378
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation.
|
27325525 |
2016 |
|
rs28939378
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik.
|
14973778 |
2004 |
|
rs28939378
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genomic diagnosis for children with intellectual disability and/or developmental delay.
|
28554332 |
2017 |
|
rs28939378
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Answers.
|
25956699 |
2016 |
|
rs28939378
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs28939378
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
This was supported by the finding that this CDG patient was compound heterozygous for three mutations in the ALG1 gene, leading to the amino acid substitutions S150R and D429E on one allele and S258L on the other.
|
14709599 |
2004 |
|
rs28939378
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I.
|
14973782 |
2004 |
|
rs28939378
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
|
26931382 |
2016 |
|
rs369160589
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs374928784
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs398124348
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs398124349
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs746019074
|
|
CTG |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs752922461
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs794726944
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs794727073
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs794727301
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs16835020
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast to a previously reported speculation on R438W we confirmed both mutations as disease-causing in ALG1-CDG.
|
24157261 |
2014 |
|
rs1420712806
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the process of studying two siblings, aged 6 and 11 years, with MOGS-CDG and biallelic MOGS (mannosyl-oligosaccharide glucosidase) mutations (GenBank: NM_006302.2; c.[65C>A; 329G>A] p.[Ala22Glu; Arg110His]; c.[370C>T] p.[Gln124(∗)]), we noted that their survival was much longer than the previous report of MOGS-CDG, in a child who died at 74 days of age.
|
26805780 |
2016 |
|
rs370434427
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We add four new biochemically confirmed variants to the list of ALG3-CDG inducing variants: c.350G>C (p.R117P), c.1263G>A (p.W421*), c.1037A>G (p.N346S), and the intron variant c.296+4A>G.
|
31067009 |
2019 |
|
rs4630153
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A gene that causes one of the congenital disorders of glycosylation (CDG) has a mutation (911T-->C ) that changes a phenylalanine to serine at position 304 (F304S) of the alpha 1,3 glucosyl transferase.
|
11875054 |
2002 |
|
rs4630153
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A gene that causes one of the congenital disorders of glycosylation (CDG) has a mutation (911T-->C ) that changes a phenylalanine to serine at position 304 (F304S) of the alpha 1,3 glucosyl transferase.
|
11875054 |
2002 |
|
rs4630153
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The aim of our study was to estimate the frequencies of ALG6-CDG related p.Y131H and p.F304S polymorphisms in the Croatian population.
|
21899441 |
2012 |