Genomic variant #0000344471

Chromosome 16
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.2546171T>C
DNA change (hg38) -
Published as TBC1D24(NM_001199107.1):c.22T>C (p.Cys8Arg)
ISCN -
DB-ID TBC1D24_000066 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner VKGL-NL_Nijmegen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
TBC1D24 NM_001199107.1 -?/. - c.22T>C likely benign r.(?) p.(Cys8Arg)
TBC1D24 NM_020705.2 -?/. - c.22T>C likely benign r.(?) p.(Cys8Arg)