Individual #00117830

ID_report -
Reference PubMed: Hoffmann 2006
Remarks One affected infant death - diaphragmatic eventration
Gender -
Consanguinity -
Country Germany
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases EVMPS
Owner name Johan den Dunnen


Phenotypes

pterygium syndrome, multiple, Escobar type (EVMPS) (EVMPS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000093218 Multiple Pterygium Syndrome - Escobar Variant - - Unknown - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000118293 DNA SEQ - - CHRNG 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

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     

Effect     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Protein/Legacy     

CodonNr     

Method     

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     

Protein/Stain     

Protein level     

Non_Public     
2 Unknown g.233405371_233405379dup g.232540661_232540669dup - - CHRNG_000037 compound heterozygote. ; Previously reported:CDNA 300dup(9), mature protein after signal peptide cleavage 79dup(3). - - - Germline - - - 0 - Johan den Dunnen CHRNG +/+ - - - - - 4 NM_005199.4:c.300_308dup - - r.(?) p.(Arg101_Pro103dup) - - - - - - - - - - - - - - - - - - - - - - - -
2 Unknown g.233410280C>T g.232545570C>T - - CHRNG_000038 compound heterozygote. ; Previously reported:CDNA 1408C->T, mature protein after signal peptide cleavage R448X. - - - Germline - - - 0 - Johan den Dunnen CHRNG +/+ - - - - - 12 NM_005199.4:c.1408C>T - - r.(?) p.(Arg470*) - - - - - - - - - - - - - - - - - - - - - - - -
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