Individual #00018530

ID_report -
Reference -
Remarks -
Gender M
Consanguinity ?
Country ? (unknown)
Population ?
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases GTPTS
Owner name Philippe Campeau


Phenotypes

genitopatellar syndrome (GTPTS) (GTPTS)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     
0000016883 - Unknown - - - - - Scrotal hypoplasia; Cryptorchidism; Absent patellae; Flexion contractures of the knees; Club foot; Aplasia of corpus callosum; Severe intellectual disability; Delayed motor milestones; Microcephaly; Coarse face; Broad/bulbous nose; Micrognathia; Hydronephrosis; Congenital heart defect (ASD) - Philippe Campeau



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000018514 DNA SEQ - - KAT6B 1 Philippe Campeau



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     
10 Unknown +/+ g.76788351_76788354del g.75028593_75028596del c.3769_3772delTCTA - KAT6B_000018 - PubMed: Simpson et al. - - Unknown ? - - 0 - Philippe Campeau KAT6B - - - - - 18 NM_012330.3:c.3769_3772del - - r.(?) p.(Lys1258Glyfs*13) - - - - - - - - - - - - - - - - - - -
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