Screening #0000004019

Individual ID 00004097
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 1
Owner name Philippe Campeau


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
TBC1D24 TBC1 domain family, member 24 16 p13.3 2 188 120 2019-02-24 DFNA-65, DFNB-86, DOORS, EIEE-16, FIME, ID, epilepsy, focal, dysarthria, intellectual disability, cortical thickening, cerebellar atrophy, epilepsy, myoclonic, dystonia, hemiparesis, autonomic signs, lethargy, progressive diffuse cerebral atrophy



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     
16 Both (homozygous) ?/? g.2546873C>T g.2496872C>T - - TBC1D24_000007 - PubMed: Campeau et al - - Germline - - pcampeau 0 - Philippe Campeau TBC1D24 - - - - - 2 NM_001199107.1:c.724C>T, NM_020705.2:c.724C>T - - r.(?) p.(Arg242Cys) - - - - - - - - - - - - - - - - - - -
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