Individual #00034565

ID_report -
Reference PubMed: Jameel 2014, Journal: Jameel 2014
Remarks 4-generation family, 2 affected bothers, unaffected heterozygous carriers
Gender M
Consanguinity yes
Country Pakistan
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 2
Diseases CP
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2015-03-27 22:41:36 +01:00 (CET)
Date last edited N/A


Phenotypes

palsy, cerebral (CP) (CP)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000027970 see paper; erebral palsy, spastic paraplegia, intellectual disability, ... - - Isolated (sporadic) - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000034636 DNA;RNA RT-PCR;SEQ;SEQ-NG - - AP4M1 1 Johan den Dunnen



Variants

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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/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
7 Both (homozygous) +/. - pathogenic g.99700344_99700345del g.100102721_100102722del 194_195delAT - AP4M1_000002 whole exome sequencing; not in 400 control chromosomes; mRNA expression 0.33 PubMed: Jameel 2014, Journal: Jameel 2014 - - Germline yes - - - - Johan den Dunnen AP4M1 - - - - 3 NM_004722.3:c.194_195del - r.194_195del p.Tyr65Phefs*50 - - - - - - - - - - - - - -
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