Individual #00117847

ID_report -
Reference -
Remarks -
Gender M
Consanguinity yes
Country Turkey
Population Turkish
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases EVMPS
Owner name Selma Demir Ulusal


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     
0000093235 multiple pterygium syndrome, Escobar variant; EVMPS - - Familial, autosomal recessive 12y - - - - Selma Demir Ulusal



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000118310 DNA SEQ - - CHRNG 1 Selma Demir Ulusal



Variants

1 entry on 1 page. Showing entry 1.
Legend  

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 Both (homozygous) g.233407968_233407985del g.232543258_232543275del - - CHRNG_000057 g.8532_8549del - - - Germline - - - 0 - Selma Demir Ulusal CHRNG +?/. - - - - - 8_81 NM_005199.4:c.806-17_806del - - r.spl p.? - - - - - - - - - - - - - - - - - - - - - - - -
Legend