Variant #0000611465 (NC_000008.10:g.141285765del, NM_001160372.1:c.2271del (TRAPPC9))

Chromosome 8
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.141285765del
DNA change (hg38) g.140275666del
Published as -
ISCN -
DB-ID TRAPPC9_000057
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_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2019-12-04 15:24:38 +01:00 (CET)
Date last edited 2022-11-01 13:01:21 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TRAPPC9 NM_001160372.1 +/. - c.2271del r.(?) p.(Thr758LeufsTer10)


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