| Variant ID | 8844 |
|---|---|
| Entrez Gene ID | 353376 |
| Gene | TICAM2 (GeneCards) |
| Location | hg19 5:114934328-114934328
hg38 5:115598631-115598631 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.114934328 C>T (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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4145 |
| CADD Raw score (version 1.3) | 0.023983 (Deleterious) |
| FATHMM raw prediction score | 0.06159 (Tolerated) |
| Deleterious probability by DeFine | 0.4794 (Neutral) |
| Entrez Gene ID | 353376 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TICAM2 (GeneCards) |
| Number of variants in TICAM2 in this database | 2 (view all the variants) |
| Full name | toll like receptor adaptor molecule 2 |
| Band | 5q22.3 |
| Other IDs | Vega: OTTHUMG00000162905 OMIM: 608321 HGNC: HGNC:21354 Ensembl: ENSG00000243414 |
| Other names | TIRP, TRAM, TIRAP3, MyD88-4, TICAM-2 |
| Summary | TIRP is a Toll/interleukin-1 receptor (IL1R; MIM 147810) (TIR) domain-containing adaptor protein involved in Toll receptor signaling (see TLR4; MIM 603030).[supplied by OMIM, Apr 2004] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |