Variant #0000349596 (NC_000016.9:g.2546346C>T, NM_001199107.1:c.197C>T (TBC1D24))

Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.2546346C>T
DNA change (hg38) g.2496345C>T
Published as -
ISCN -
DB-ID TBC1D24_000067
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TBC1D24 NM_001199107.1 ?/. - c.197C>T r.(?) p.(Thr66Met)
TBC1D24 NM_020705.2 ?/. - c.197C>T r.(?) p.(Thr66Met)


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