Genomic variant #0000188204

Individual ID 00116891
Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.2546327C>T
DNA change (hg38) g.2496326C>T
Published as -
ISCN -
DB-ID TBC1D24_000025
Variant remarks -
Reference PubMed: Bobbili 2018, Journal: Bobbili 2018
ClinVar ID -
dbSNP ID rs373914077
Origin Germline
Segregation -
Frequency 1/567 controls
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 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.178C>T - r.(?) p.(Arg60Trp)
TBC1D24 NM_020705.2 ./. - c.178C>T - r.(?) p.(Arg60Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000117359 DNA SEQ-NG - - - 1 Dheeraj Bobbili