Individual #00074348

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     
0000054167 - - - Unknown - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000074509 DNA SEQ;SEQ-NG - - ANO5, CAV3 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
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     
3 Parent #1 ?/. g.8787474G>A g.8745788G>A R126H - CAV3_000021 - - - - Germline - - - 0 - Johan den Dunnen CAV3 - - - - - 2 NM_033337.2:c.377G>A - - r.(?) p.(Arg126His) - - - - - - - - - - - - - - - - - - -
11 Parent #1 ?/. g.22301267A>Y g.22279721A>Y M900L - ANO5_000079 - Fichna ESHG2016 P10.20 - - Germline - 1/82 cases LGMD - 0 - Johan den Dunnen ANO5 - - - - - 22 NM_213599.2:c.2698A>Y - - r.(?) p.(Met900Leu) - - - - - - - - - - - - - - - - - - -
Legend