Variant #0000873740 (NC_000008.10:g.141449258T>G, NM_001160372.1:c.623A>C (TRAPPC9))

Individual ID 00414555
Chromosome 8
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.141449258T>G
DNA change (hg38) g.140439159T>G
Published as NM_031466.8:c.623A>C
ISCN -
DB-ID TRAPPC9_000073
Variant remarks -
Reference PubMed: Uctepe 2023
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Eyyup Uctepe
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by N/A
Date created 2022-07-29 11:25:06 +02:00 (CEST)
Date last edited 2025-01-23 12:29:47 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TRAPPC9 NM_001160372.1 +?/. 3 c.623A>C r.(?) p.(His208Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000415836 DNA SEQ-NG - WES - 1 Eyyup Uctepe


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