Genomic variant #0000188122

Individual ID 00116809
Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.2546790G>A
DNA change (hg38) g.2496789G>A
Published as -
ISCN -
DB-ID TBC1D24_000018 See all 5 reported entries
Variant remarks -
Reference PubMed: Bobbili 2018, Journal: Bobbili 2018
ClinVar ID -
dbSNP ID rs200324356
Origin Germline
Segregation -
Frequency 4/567 controls
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.0011 View details
Owner Dheeraj Bobbili




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
TBC1D24 NM_001199107.1 ./. - c.641G>A - r.(?) p.(Arg214His)
TBC1D24 NM_020705.2 ./. - c.641G>A - r.(?) p.(Arg214His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000117277 DNA SEQ-NG - - - 1 Dheeraj Bobbili