Individual #00074347

ID_report -
Reference Fichna ESHG2016 P10.20
Remarks -
Gender -
Consanguinity no
Country Poland
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases GDD
Owner name Johan den Dunnen


Phenotypes

dysplasia, gnathodiaphyseal (GDD) (GDD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000054166 - - - Unknown - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000074508 DNA SEQ;SEQ-NG - - ANO5, DYSF 3 Johan den Dunnen



Variants

3 entries on 1 page. Showing entries 1 - 3.
Legend  

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 Parent #2 +/. g.71887693delG g.71660563delG 4797delG - DYSF_000555 - Fichna ESHG2016 P10.20 - - Germline - - - 0 - Johan den Dunnen DYSF - - - - - 44 NM_003494.3:c.4798delG - - r.(?) p.(Asp1600Ilefs*8) - - - - - - - - - - - - - - - - - - -
2 Parent #1 +/. g.71892291G>T g.71665161G>T IVS45-1G>T - DYSF_000554 - - - - Germline - - - 0 - Johan den Dunnen DYSF - - - - - 45i NM_003494.3:c.5058-1G>T - - r.spl p.? - - - - - - - - - - - - - - - - - - -
11 Parent #1 ?/. g.22294441C>G g.22272895C>G T714S - ANO5_000060 - Fichna ESHG2016 P10.20 - - Germline - 1/82 cases LGMD - 0 - Johan den Dunnen ANO5 - - - - - 19 NM_213599.2:c.2141C>G - - r.(?) p.Thr714Ser) - - - - - - - - - - - - - - - - - - -
Legend