Individual #00177107

ID_report Patient 2 in report
Reference PubMed: [Bashir 2017]
Remarks -
Gender M
Consanguinity no
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases -
Owner name Philippe Campeau


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000178007 DNA SEQ-NG - WES - 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.76788787_76788788delCT - - - KAT6B_000107 - PubMed: [Bashir 2017] - - De novo - - - 0 - Philippe Campeau KAT6B - - - - - - NM_001256468.1:c.3656_3657delCT, NM_001256469.1:c.3329_3330delCT, NM_012330.3:c.4205_4206delCT - - r.(?) p.(Ser1219Cysfs*5), p.(Ser1110Cysfs*5), p.(Ser1402Cysfs*5) - - - - - - - - - - - - - - - - - - -
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