Screening #0000081105

Individual ID 00080993
Template DNA
Technique SEQ;SEQ-NG
Tissue -
Remarks -
Variants found? 1
Owner name Daniel Trujillano


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
KAT6B K(lysine) acetyltransferase 6B 10 q22.2 3 157 120 2019-06-28 GTPTS, ID, SBBYSS



Variants found

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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