rs118203984
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
A
0.800
CausalMutation
CLINVAR
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.
14635103
2003
rs118203984
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
0.800
GeneticVariation
UNIPROT
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
23519317
2013
rs118203984
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
0.800
GeneticVariation
UNIPROT
Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.
11243727
2001
rs118203984
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
A
0.800
CausalMutation
CLINVAR
SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site.
28664505
2017
rs118203984
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
0.800
GeneticVariation
UNIPROT
Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene.
11901270
2002
rs118203984
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
0.800
GeneticVariation
UNIPROT
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.
14635103
2003
rs375628463
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
A
0.800
CausalMutation
CLINVAR
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.
14635103
2003
rs375628463
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
A
0.800
CausalMutation
CLINVAR
Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.
11243727
2001
rs375628463
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
0.800
GeneticVariation
UNIPROT
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
23519317
2013
rs375628463
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
A
0.800
GeneticVariation
CLINVAR
rs765561257
GPLD1;ALDH5A1
succinic semialdehyde dehydrogenase deficiency
0.800
GeneticVariation
UNIPROT
Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.
11243727
2001
rs765561257
GPLD1;ALDH5A1
succinic semialdehyde dehydrogenase deficiency
0.800
GeneticVariation
UNIPROT
Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene.
11901270
2002
rs765561257
GPLD1;ALDH5A1
succinic semialdehyde dehydrogenase deficiency
0.800
GeneticVariation
UNIPROT
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
23519317
2013
rs765561257
GPLD1;ALDH5A1
succinic semialdehyde dehydrogenase deficiency
0.800
GeneticVariation
UNIPROT
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.
14635103
2003
rs765561257
GPLD1;ALDH5A1
succinic semialdehyde dehydrogenase deficiency
T
0.800
CausalMutation
CLINVAR
rs118203982
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
A
0.700
CausalMutation
CLINVAR
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.
14635103
2003
rs118203982
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
A
0.700
CausalMutation
CLINVAR
Psychomotor delay, hypotonia, and behavioural disorders: A case of succinic semialdehyde dehydrogenase deficiency.
26964512
2019
rs118203982
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
A
0.700
CausalMutation
CLINVAR
Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.
11243727
2001
rs118203983
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
T
0.700
CausalMutation
CLINVAR
rs1301821497
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
G
0.700
CausalMutation
CLINVAR
rs1326526453
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
0.700
GeneticVariation
UNIPROT
rs145087265
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
0.700
GeneticVariation
UNIPROT
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.
14635103
2003
rs145087265
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
0.700
GeneticVariation
UNIPROT
Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.
11243727
2001
rs145087265
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
0.700
GeneticVariation
UNIPROT
Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene.
11901270
2002
rs1561865665
GPLD1;ALDH5A1
succinic semialdehyde dehydrogenase deficiency
T
0.700
CausalMutation
CLINVAR