Individual #00080993

ID_report -
Reference Trujillano et al., submitted
Remarks unaffected non-carrier parents
Gender -
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases GTPTS
Owner name Daniel Trujillano


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     
0000060562 - Isolated (sporadic) - - - - - Genitopatellar syndrome (OMIM:606170) - Daniel Trujillano



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081105 DNA SEQ;SEQ-NG - - KAT6B 1 Daniel Trujillano



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.76788678G>T g.75028920G>T - - KAT6B_000051 - Trujillano et al., submitted - - De novo - - - 0 - Daniel Trujillano KAT6B - - - - - - NM_001256468.1:c.3547G>T, NM_001256469.1:c.3220G>T, NM_012330.3:c.4096G>T - ACMG: 4 r.(?) p.(Glu1183*), p.(Glu1074*), p.(Glu1366*) - - - - - - - - - - - - - - - - - - -
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