Individual #00208753

ID_report 30461311-Fam
Reference PubMed: Sher 2018
Remarks 3-generation family, 3 affected (3M), unaffected heterozygous carrier parents/relatives
Gender M
Consanguinity yes
Country Pakistan
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 3
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     
0000157371 see paper; ... - - Familial, autosomal recessive - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000209802 DNA SEQ - - CHRNG 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

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     

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     

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 level     
2 Both (homozygous) +/. g.233404782C>T - - - CHRNG_000002 - PubMed: Sher 2018 - - Germline yes - - 0 - Johan den Dunnen CHRNG - - - - - 2 NM_005199.4:c.136C>T - pathogenic (recessive) r.(?) p.(Arg46*) - - - - - - - - - - - - - - - - - - -
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