| Variant ID | 2320 |
|---|---|
| Entrez Gene ID | 100129138 |
| Gene | LOC100129138 (GeneCards) |
| Location | hg19 1:106014246-106014246
hg38 1:105471624-105471624 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.106014246 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003229 |
|---|---|
| EIGEN score | -0.0865 |
| CADD Raw score (version 1.3) | 0.08259 (Deleterious) |
| FATHMM raw prediction score | 0.09586 (Tolerated) |
| Deleterious probability by DeFine | 0.3237 (Neutral) |
| Entrez Gene ID | 100129138 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LOC100129138 (GeneCards) |
| Number of variants in LOC100129138 in this database | 24 (view all the variants) |
| Full name | THAP domain containing 3 pseudogene |
| Band | 1p21.1 |
| Other IDs | Ensembl: ENSG00000215869 |
| Other names | None |
| Summary | None |
| Individual ID | 29217584.12 (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; |