chr8:75232848:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr8:75,232,848-75,406,932
hg38 chr8:74,320,613-74,494,697 

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.153 Charcot-Marie-Tooth disease Mitochondrial defects and neuromuscular degeneration caused by altered expressio... BeFree,CLINVAR,GAD,LHGDN 25122658 Detail
0.153 Charcot-Marie-Tooth disease Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease. BeFree,CLINVAR,GAD,LHGDN 25168384 Detail
0.153 Charcot-Marie-Tooth disease A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease assoc... BeFree,CLINVAR,GAD,LHGDN 25337607 Detail
0.153 Charcot-Marie-Tooth disease Exome sequencing reveals mutations in MFN2 and GDAP1 in severe Charcot-Marie-Too... BeFree,CLINVAR,GAD,LHGDN 25403865 Detail
0.153 Charcot-Marie-Tooth disease Only four genes (PMP22, GJB1, MPZ, and GDAP1) accounted for 92% of all genetical... BeFree,CLINVAR,GAD,LHGDN 25429913 Detail
0.153 Charcot-Marie-Tooth disease Otherwise, while demyelinating autosomal recessive CMT used to be classified as ... BeFree,CLINVAR,GAD,LHGDN 25454638 Detail
0.153 Charcot-Marie-Tooth disease GDAP1 mutations also alter fission, fusion and transport of mitochondria and are... BeFree,CLINVAR,GAD,LHGDN 25847151 Detail
0.153 Charcot-Marie-Tooth disease To evaluate, by skin biopsy, dermal nerve fibers in 31 patients with 3 common Ch... BeFree,CLINVAR,GAD,LHGDN 26362287 Detail
<0.001 neuroblastoma NA BeFree Detail
<0.001 Hereditary Motor and Sensory Neuropathies NA BeFree Detail
<0.001 Peripheral neuropathy NA BeFree Detail
<0.001 Signs and Symptoms, Respiratory NA BeFree Detail
<0.001 Tooth Diseases NA BeFree Detail
0.003 Vocal Cord Paralysis NA BeFree,GAD Detail
<0.001 Sensory neuropathy NA BeFree Detail
<0.001 polyneuropathy NA BeFree Detail
<0.001 Hereditary Motor and Sensory-Neuropathy Type II NA BeFree Detail
0.004 neuropathy Mitochondrial defects and neuromuscular degeneration caused by altered expressio... BeFree 25122658 Detail
<0.001 Neurodegenerative Disorders NA BeFree Detail
<0.001 Weakness of limb NA BeFree Detail
<0.001 Inherited neuropathies NA BeFree Detail
<0.001 Central neuroblastoma NA BeFree Detail
<0.001 Partial Paralysis (Paresis) Vocal Cords NA BeFree Detail
<0.001 Mitochondrial Diseases NA BeFree Detail
<0.001 respiratory failure NA BeFree Detail
<0.001 mitochondrial complex I deficiency NA BeFree Detail
0.120 Charcot-Marie-Tooth disease, Type 2H NA ORPHANET Detail
<0.001 Inherited Peripheral Neuropathy NA BeFree Detail
0.002 rheumatoid arthritis NA GAD Detail
Annotation

Annotations

DescrptionSourceLinks
Mitochondrial defects and neuromuscular degeneration caused by altered expression of Drosophila Gdap... DisGeNET Detail
Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease. DisGeNET Detail
A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly i... DisGeNET Detail
Exome sequencing reveals mutations in MFN2 and GDAP1 in severe Charcot-Marie-Tooth disease. DisGeNET Detail
Only four genes (PMP22, GJB1, MPZ, and GDAP1) accounted for 92% of all genetically confirmed CMT cas... DisGeNET Detail
Otherwise, while demyelinating autosomal recessive CMT used to be classified as CMT4 (A, B, C …), we... DisGeNET Detail
GDAP1 mutations also alter fission, fusion and transport of mitochondria and are associated either w... DisGeNET Detail
To evaluate, by skin biopsy, dermal nerve fibers in 31 patients with 3 common Charcot-Marie-Tooth (C... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Mitochondrial defects and neuromuscular degeneration caused by altered expression of Drosophila Gdap... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr8:75,232,848-75,406,932
Variant Type
snv
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