| Variant ID | 21738 |
|---|---|
| Entrez Gene ID | 7109 |
| Gene | TRAPPC10 (GeneCards) |
| Location | hg19 21:45455324-45455324
hg38 21:44035443-44035443 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000021.8:g.45455324 T>C (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 48129895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3938 |
| CADD Raw score (version 1.3) | -0.117101 (Deleterious) |
| FATHMM raw prediction score | 0.05969 (Tolerated) |
| Deleterious probability by DeFine | 0.2322 (Neutral) |
| Entrez Gene ID | 7109 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TRAPPC10 (GeneCards) |
| Number of variants in TRAPPC10 in this database | 3 (view all the variants) |
| Full name | trafficking protein particle complex 10 |
| Band | 21q22.3 |
| Other IDs | Vega: OTTHUMG00000086894 OMIM: 602103 HGNC: HGNC:11868 Ensembl: ENSG00000160218 |
| Other names | EHOC1, GT334, TMEM1, TRS30, EHOC-1, TRS130 |
| Summary | The protein encoded by this gene is a transmembrane protein found in the cis-Golgi complex. The encoded protein is part of the multisubunit transport protein particle (TRAPP) complex and may be involved in vesicular transport from the endoplasmic reticulum to the Golgi. Mutations in this gene could be responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy, or for autoimmune polyglandular disease type 1. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.15 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |