Variant #0000314385 (NC_000016.9:g.2546072G>A, NM_001199107.1:c.-78G>A (TBC1D24))

Chromosome 16
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.2546072G>A
DNA change (hg38) g.2496071G>A
Published as TBC1D24(NM_001199107.2):c.-78G>A
ISCN -
DB-ID TBC1D24_000030
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) Retrieve
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TBC1D24 NM_001199107.1 -?/. - c.-78G>A r.(?) p.(=)
TBC1D24 NM_020705.2 -?/. - c.-78G>A r.(?) p.(=)


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