rs121918103
×
Entrez Id:
5660
Gene Symbol:
PSAP
PSAP
Metachromatic Leukodystrophy due to Saposin B Deficiency
0.800
GeneticVariation
UNIPROT
A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD).
10682309
2000
rs121918104
×
Entrez Id:
5660
Gene Symbol:
PSAP
PSAP
Metachromatic Leukodystrophy due to Saposin B Deficiency
0.800
GeneticVariation
UNIPROT
A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD).
10682309
2000
rs121918107
×
Entrez Id:
5660
Gene Symbol:
PSAP
PSAP
Metachromatic Leukodystrophy due to Saposin B Deficiency
0.800
GeneticVariation
UNIPROT
A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD).
10682309
2000
rs121918103
×
Entrez Id:
5660
Gene Symbol:
PSAP
PSAP
Metachromatic Leukodystrophy due to Saposin B Deficiency
0.800
GeneticVariation
UNIPROT
An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity.
10196694
1999
rs121918104
×
Entrez Id:
5660
Gene Symbol:
PSAP
PSAP
Metachromatic Leukodystrophy due to Saposin B Deficiency
0.800
GeneticVariation
UNIPROT
An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity.
10196694
1999
rs121918107
×
Entrez Id:
5660
Gene Symbol:
PSAP
PSAP
Metachromatic Leukodystrophy due to Saposin B Deficiency
0.800
GeneticVariation
UNIPROT
An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity.
10196694
1999
rs121918103
×
Entrez Id:
5660
Gene Symbol:
PSAP
PSAP
Metachromatic Leukodystrophy due to Saposin B Deficiency
0.800
GeneticVariation
UNIPROT
Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease.
2019586
1991
rs121918104
×
Entrez Id:
5660
Gene Symbol:
PSAP
PSAP
Metachromatic Leukodystrophy due to Saposin B Deficiency
0.800
GeneticVariation
UNIPROT
Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease.
2019586
1991
rs121918107
×
Entrez Id:
5660
Gene Symbol:
PSAP
PSAP
Metachromatic Leukodystrophy due to Saposin B Deficiency
0.800
GeneticVariation
UNIPROT
Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease.
2019586
1991
rs121918103
×
Entrez Id:
5660
Gene Symbol:
PSAP
PSAP
Metachromatic Leukodystrophy due to Saposin B Deficiency
0.800
GeneticVariation
UNIPROT
Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy.
2302219
1990
rs121918103
×
Entrez Id:
5660
Gene Symbol:
PSAP
PSAP
Metachromatic Leukodystrophy due to Saposin B Deficiency
A
0.800
GeneticVariation
CLINVAR
Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy.
2302219
1990
rs121918103
×
Entrez Id:
5660
Gene Symbol:
PSAP
PSAP
Metachromatic Leukodystrophy due to Saposin B Deficiency
A
0.800
GeneticVariation
CLINVAR
Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect.
2320574
1990
rs121918103
×
Entrez Id:
5660
Gene Symbol:
PSAP
PSAP
Metachromatic Leukodystrophy due to Saposin B Deficiency
0.800
GeneticVariation
UNIPROT
Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect.
2320574
1990
rs121918104
×
Entrez Id:
5660
Gene Symbol:
PSAP
PSAP
Metachromatic Leukodystrophy due to Saposin B Deficiency
0.800
GeneticVariation
UNIPROT
Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy.
2302219
1990
rs121918104
×
Entrez Id:
5660
Gene Symbol:
PSAP
PSAP
Metachromatic Leukodystrophy due to Saposin B Deficiency
0.800
GeneticVariation
UNIPROT
Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect.
2320574
1990
rs121918107
×
Entrez Id:
5660
Gene Symbol:
PSAP
PSAP
Metachromatic Leukodystrophy due to Saposin B Deficiency
0.800
GeneticVariation
UNIPROT
Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect.
2320574
1990
rs121918107
×
Entrez Id:
5660
Gene Symbol:
PSAP
PSAP
Metachromatic Leukodystrophy due to Saposin B Deficiency
0.800
GeneticVariation
UNIPROT
Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy.
2302219
1990
rs121918103
×
Entrez Id:
5660
Gene Symbol:
PSAP
PSAP
Metachromatic Leukodystrophy due to Saposin B Deficiency
A
0.800
CausalMutation
CLINVAR
rs121918104
×
Entrez Id:
5660
Gene Symbol:
PSAP
PSAP
Metachromatic Leukodystrophy due to Saposin B Deficiency
G
0.800
CausalMutation
CLINVAR
rs121918107
×
Entrez Id:
5660
Gene Symbol:
PSAP
PSAP
Metachromatic Leukodystrophy due to Saposin B Deficiency
G
0.800
CausalMutation
CLINVAR
rs1431844269
×
Entrez Id:
5660
Gene Symbol:
PSAP
PSAP
Metachromatic Leukodystrophy due to Saposin B Deficiency
C
0.700
GeneticVariation
CLINVAR
Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene.
30632081
2019
rs1564815053
×
Entrez Id:
5660
Gene Symbol:
PSAP
PSAP
Metachromatic Leukodystrophy due to Saposin B Deficiency
C
0.700
CausalMutation
CLINVAR
Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene.
30632081
2019
rs770171865
×
Entrez Id:
5660
Gene Symbol:
PSAP
PSAP
Metachromatic Leukodystrophy due to Saposin B Deficiency
0.700
GeneticVariation
UNIPROT
A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD).
10682309
2000
rs770171865
×
Entrez Id:
5660
Gene Symbol:
PSAP
PSAP
Metachromatic Leukodystrophy due to Saposin B Deficiency
0.700
GeneticVariation
UNIPROT
An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity.
10196694
1999
rs770171865
×
Entrez Id:
5660
Gene Symbol:
PSAP
PSAP
Metachromatic Leukodystrophy due to Saposin B Deficiency
0.700
GeneticVariation
UNIPROT
Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease.
2019586
1991