Genomic variant #0000022925

Individual ID 00004098
Chromosome 16
Allele Maternal (confirmed)
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.2546207C>T
DNA change (hg38) g.2496206C>T
Published as -
ISCN -
DB-ID TBC1D24_000019 See all 2 reported entries
Variant remarks -
Reference PubMed: Campeau et al
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site pcampeau
VIP 0
Methylation pcampeau
Average frequency (large NGS studies) Variant not found in online data sets
Owner Philippe Campeau




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
TBC1D24 NM_001199107.1 ?/? 2 c.58C>T - r.(?) p.(Gln20*)
TBC1D24 NM_020705.2 ?/? 2 c.58C>T - r.(?) p.(Gln20*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000004020 DNA SEQ - - TBC1D24 2 Philippe Campeau