Individual #00398528

ID_report Pat4
Reference PubMed: Moey 2015
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ID
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

intellectual disability (ID) (ID)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Phenotype details     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000291656 intellectual disability - Unknown see paper; ..., severe intellectual disability; 11y-speech delay, no words; microcephaly, hypotonia, hypogonadism, myoclonus; 11y-st, 11y-not walking - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000399774 DNA arrayCGH - - - 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     
1 Unknown ?/. - VUS g.5924535G>C g.5864475G>C - - NPHP4_000006 - - - - Germline - - - 0 - Gerard C.P. Schaafsma HTT, HUWE1, NPHP4 - - - - - 2i, _1_84_, NM_002111.6:c.348-2680C=, NM_031407.5:c.-426_*1213{2}, NM_015102.4:c.3859C>G - r.(?), r.? p.(=), p.?, p.(Gln1287Glu) - - - - - - - - - - - - - - - - - - -
X Parent #1 +/. - pathogenic (dominant) g.(?_52341517)_(53782896_?)dup - hg19 52341517_53782896dup - HUWE1_000176 1,441kb duplication affecting TSPYL2, KDM5C, IQSEC2, SMC1A, HUWE1 PubMed: Moey 2015 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen IQSEC2 - - - - - _1_15_ NM_001111125.1:c.-201_*1336{2} - r.? p.? - - - - - - - - - - - - - - - - - - -
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