rs149782619
×
Entrez Id:
3094
Gene Symbol:
HINT1
HINT1
Isaacs syndrome
0.810
GeneticVariation
BEFREE
The most common cause of neuromyotonia and axonopathy, especially in patients of Slavic origin, is a c.110G>C (p.Arg37Pro ) pathogenic variant in homozygous or compound heterozygous state.
31848916
2020
rs149782619
×
Entrez Id:
3094
Gene Symbol:
HINT1
HINT1
Isaacs syndrome
0.810
GeneticVariation
UNIPROT
rs149782619
×
Entrez Id:
3094
Gene Symbol:
HINT1
HINT1
Isaacs syndrome
G
0.810
CausalMutation
CLINVAR
A case of neuromyotonia and axonal motor neuropathy: A report of a HINT1 mutation in the United States.
26182879
2015
rs149782619
×
Entrez Id:
3094
Gene Symbol:
HINT1
HINT1
Isaacs syndrome
G
0.810
CausalMutation
CLINVAR
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
22961002
2012
rs149782619
×
Entrez Id:
3094
Gene Symbol:
HINT1
HINT1
Isaacs syndrome
G
0.810
CausalMutation
CLINVAR
Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom.
25342199
2015
rs149782619
×
Entrez Id:
3094
Gene Symbol:
HINT1
HINT1
Isaacs syndrome
G
0.810
CausalMutation
CLINVAR
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
27549087
2016
rs1554088064
×
Entrez Id:
3094
Gene Symbol:
HINT1
HINT1
Isaacs syndrome
T
0.700
GeneticVariation
CLINVAR
rs1561537267
×
Entrez Id:
3094
Gene Symbol:
HINT1
HINT1
Sensory axonal neuropathy
C
0.700
GeneticVariation
CLINVAR
rs202135714
×
Entrez Id:
3094
Gene Symbol:
HINT1
HINT1
Blood Protein Measurement
CT
0.700
GeneticVariation
GWASCAT
Genomic atlas of the human plasma proteome.
29875488
2018
rs373849532
×
Entrez Id:
3094
Gene Symbol:
HINT1
HINT1
Isaacs syndrome
0.800
GeneticVariation
UNIPROT
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
22961002
2012
rs373849532
×
Entrez Id:
3094
Gene Symbol:
HINT1
HINT1
Isaacs syndrome
0.800
GeneticVariation
UNIPROT
The histidine triad protein Hint1 triggers apoptosis independent of its enzymatic activity.
16835243
2006
rs373849532
×
Entrez Id:
3094
Gene Symbol:
HINT1
HINT1
Isaacs syndrome
T
0.800
CausalMutation
CLINVAR
rs397514489
×
Entrez Id:
3094
Gene Symbol:
HINT1
HINT1
Isaacs syndrome
0.800
GeneticVariation
UNIPROT
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
22961002
2012
rs397514489
×
Entrez Id:
3094
Gene Symbol:
HINT1
HINT1
Isaacs syndrome
G
0.800
CausalMutation
CLINVAR
rs397514489
×
Entrez Id:
3094
Gene Symbol:
HINT1
HINT1
Isaacs syndrome
0.800
GeneticVariation
UNIPROT
The histidine triad protein Hint1 triggers apoptosis independent of its enzymatic activity.
16835243
2006
rs397514490
×
Entrez Id:
3094
Gene Symbol:
HINT1
HINT1
Isaacs syndrome
A
0.800
CausalMutation
CLINVAR
rs397514490
×
Entrez Id:
3094
Gene Symbol:
HINT1
HINT1
Isaacs syndrome
0.800
GeneticVariation
UNIPROT
The histidine triad protein Hint1 triggers apoptosis independent of its enzymatic activity.
16835243
2006
rs397514490
×
Entrez Id:
3094
Gene Symbol:
HINT1
HINT1
Isaacs syndrome
0.800
GeneticVariation
UNIPROT
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
22961002
2012
rs397514491
×
Entrez Id:
3094
Gene Symbol:
HINT1
HINT1
Isaacs syndrome
C
0.800
CausalMutation
CLINVAR
rs397514491
×
Entrez Id:
3094
Gene Symbol:
HINT1
HINT1
Isaacs syndrome
0.800
GeneticVariation
UNIPROT
The histidine triad protein Hint1 triggers apoptosis independent of its enzymatic activity.
16835243
2006
rs397514491
×
Entrez Id:
3094
Gene Symbol:
HINT1
HINT1
Isaacs syndrome
0.800
GeneticVariation
UNIPROT
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
22961002
2012
rs397514492
×
Entrez Id:
3094
Gene Symbol:
HINT1
HINT1
Isaacs syndrome
A
0.700
CausalMutation
CLINVAR
rs397514493
×
Entrez Id:
3094
Gene Symbol:
HINT1
HINT1
Isaacs syndrome
T
0.800
CausalMutation
CLINVAR
rs397514493
×
Entrez Id:
3094
Gene Symbol:
HINT1
HINT1
Isaacs syndrome
0.800
GeneticVariation
UNIPROT
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
22961002
2012
rs397514493
×
Entrez Id:
3094
Gene Symbol:
HINT1
HINT1
Isaacs syndrome
0.800
GeneticVariation
UNIPROT
The histidine triad protein Hint1 triggers apoptosis independent of its enzymatic activity.
16835243
2006