Individual #00081716

ID_report -
Reference -
Remarks -
Gender M
Consanguinity yes
Country Turkey
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases stature, short
Owner name Andreas Janecke


Phenotypes

arthrogryposis (arthrogryposis)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     
0000061363 - Unknown - - - - - - - Andreas Janecke

stature, short (stature, short)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000061365 short stature of postnatal onset - - Unknown - - - - - Andreas Janecke



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081846 DNA SEQ;SEQ-NG-I - - - 1 Andreas Janecke



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     
7 Both (homozygous) +?/. g.83675700G>A g.84046384G>A - - SEMA3A_000001 - - - - Germline yes - - 0 - Andreas Janecke SEMA3A - - - - - 6 NM_006080.2:c.607C>T - - r.0? p.(Arg203*) - - - - - - - - - - - - - - - - - - -
Legend