Individual #00050588

ID_report -
Reference PubMed: DDDS 2015, Journal: DDDS 2015
Remarks family, affected sibling(s)
Gender M
Consanguinity -
Country United Kingdom (Great Britain)
Population -
Age at death -
VIP 0
Data_av Decipher
Treatment -
Panel size 2
Diseases ?
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000037200 - - craniosynostosis, global developmental delay, abnormality of the palpebral fissures, abnormality of the palmar creases Unknown - - - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050533 DNA SEQ;SEQ-NG-I - - PAX3, SRPX2 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

RNA change     

Protein     

P-domain     

Exon_old     

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     

Legacy protein change     

Protein level     
2 Unknown +/. - pathogenic g.223086091G>A g.222221372G>A - - PAX3_000066 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen PAX3 - - - - - 6 NM_181457.3:c.808C>T - r.(?) p.(Arg270Cys) - - - - - - - - - - - - - - - - - - -
X Maternal (confirmed) +/. - pathogenic g.99920544G>A g.100665547G>A - - SRPX2_000019 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen SRPX2 - - - - - - NM_014467.2:c.671G>A - r.(?) p.(Arg224Gln) - - - - - - - - - - - - - - - - - - -
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