Genomic variant #0000404995

Individual ID 00016189
Chromosome 16
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.2546682C>T
DNA change (hg38) g.2496681C>T
Published as -
ISCN -
DB-ID TBC1D24_000017 See all 2 reported entries
Variant remarks -
Reference PubMed: Zhang 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Tao Yang




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
TBC1D24 NM_001199107.1 +?/? 2 c.533C>T likely pathogenic (dominant) r.(?) p.(Ser178Leu)
TBC1D24 NM_020705.2 +?/? 2 c.533C>T likely pathogenic (dominant) r.(?) p.(Ser178Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000181308 DNA SEQ;SEQ-NG - WES TBC1D24 10 Johan den Dunnen