| Variant ID | 11661 |
|---|---|
| Entrez Gene ID | 83696 |
| Gene | TRAPPC9 (GeneCards) |
| Location | hg19 8:141291035-141291035
hg38 8:140280936-140280936 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.141291035 G>A (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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0.0001 |
|---|---|
| EIGEN score | -0.2326 |
| CADD Raw score (version 1.3) | 0.025262 (Deleterious) |
| FATHMM raw prediction score | 0.07071 (Tolerated) |
| Deleterious probability by DeFine | 0.2191 (Neutral) |
| Entrez Gene ID | 83696 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TRAPPC9 (GeneCards) |
| Number of variants in TRAPPC9 in this database | 7 (view all the variants) |
| Full name | trafficking protein particle complex 9 |
| Band | 8q24.3 |
| Other IDs | Vega: OTTHUMG00000164187 OMIM: 611966 HGNC: HGNC:30832 Ensembl: ENSG00000167632 |
| Other names | T1, IBP, NIBP, MRT13, TRS120, IKBKBBP |
| Summary | This gene encodes a protein that likely plays a role in NF-kappa-B signaling. Mutations in this gene have been associated with autosomal-recessive cognitive disability. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010] |
| Individual ID | 29217584.03 (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; |