Individual #00404067

ID_report -
Reference -
Remarks -
Gender M
Consanguinity yes
Country Egypt
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases CMT
Owner name Sherifa Ahmed Hamed
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Sherifa Ahmed Hamed


Phenotypes

Charcot-Marie-Tooth disease (CMT) (CMT)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000296659 15-y boy with progressive weakness and wasting of both upper and lower limbs, behavioral abnormalities and hearing loss. He has delayed motor development but normal mental development. His nerve conduction velocity study showed demyelinating peripheral neuropathy. He has bilateral sensorineural hearing loss. Autosomal recessive Hereditary sensorimotor neuropathy - Familial, autosomal recessive 15y - 08y - - Sherifa Ahmed Hamed



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000405303 DNA SEQ blood - ABHD12 1 Sherifa Ahmed Hamed



Variants

1 entry on 1 page. Showing entry 1.
Legend   How to query  

Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
20 Both (homozygous) +/. - pathogenic (recessive) g.25300850C>T - - - ABHD12_000050 - - - - Germline yes - - - - Sherifa Ahmed Hamed ABHD12 - - - - 4 NM_001042472.2:c.527G>A - r.(?) p.(Gly176Glu) - - - - - - - - - - - - - - - - - - -
Legend   How to query