Individual #00050621

ID_report -
Reference PubMed: DDDS 2015, Journal: DDDS 2015
Remarks family, affected parents
Gender M
Consanguinity -
Country United Kingdom (Great Britain)
Population -
Age/Death -
VIP 0
Data_av Decipher
Treatment -
Panel size 2
Diseases ?
Owner name Johan den Dunnen


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Phenotype details     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000037233 - - Unknown - - global developmental delay, aggressive behavior, restrictive behavior, microcephaly, abnormal facial shape, macrotia, abnormality of eye movement - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050566 DNA SEQ;SEQ-NG-I - - - 1 Johan den Dunnen



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     
6 Maternal (confirmed) +/. g.73709065_76815249del - - - KHDC3L_000005 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen CD109, COL12A1, COX7A2, DDX43, DPPA5, EEF1A1, FILIP1, IMPG1, KCNQ5, KCNQ5-AS1, KHDC1, KHDC1L, KHDC3L, MB21D1, MIR4463, MTO1, MYO6, OOEP, SENP6, SLC17A5, TMEM30A - - - - - - NM_133493.3:c.-696874_*2281892del, NM_004370.5:c.-899792_*2087198del, NM_001865.3:c.-861703_*2238581del, NM_018665.2:c.-395564_*2688365del, NM_001025290.2:c.-2751301_*353978del, NM_001402.5:c.-2584557_*518468del, NM_015687.2:c.-612126_*2309342del, NM_001563.2:c.-33044_*2922741del, NM_019842.3:c.399-4566_*2910112del, NR_046621.1:n.-2962012_*135461del, NM_030568.3:c.-2842766_*242187del, NM_001126063.2:c.-2880118_*224406del, NM_001017361.2:c.-363388_*2741666del, NM_138441.2:c.-2653345_*425885del, NR_039670.1:n.-2429058_*677060del, NM_133645.2:c.-462513_*2604791del, NM_004999.3:c.-2750123_*190520del, NM_001080507.2:c.-2735734_*369442del, NM_015571.2:c.-2603176_*389939del, NM_012434.4:c.-2451640_*595735del, NM_018247.3:c.-820895_*2256753del - - , r.0? , p.0? - - - - - - - - - - - - - - - - - - -
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