Genomic variant #0000401479

Individual ID 00177122
Chromosome 16
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.2546828C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID TBC1D24_000081
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Somatic
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Jing Zhang




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
TBC1D24 NM_001199107.1 +?/. - c.679C>T - r.(?) p.(Arg227Trp)
TBC1D24 NM_020705.2 +?/. - c.679C>T - r.(?) p.(Arg227Trp)



Screenings

Stop! No screenings found!