| Variant ID | 1555 |
|---|---|
| Entrez Gene ID | 157695 |
| Gene | TDRP (GeneCards) |
| Location | hg19 8:442616-442616
hg38 8:492616-492616 |
| Disease | Gender Dysphoria (view all the variants in this disease) |
| Method | HiSeq2500 |
| Mutation(HGVS format) | NC_000008.10:g.442616 A>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 114 |
| Amino acid changes in protein | L > P |
| Position in cDNA | 341 |
| Changes in cDNA | T > C |
| mRNA accession | NM_175075.4 |
| mRNA length | 3436 |
| Reference length | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4243 |
| CADD Raw score (version 1.3) | 5.566141 (Deleterious) |
| FATHMM raw prediction score | 0.56646 (Tolerated) |
| SIFT score | 0.002 (Deleterious) |
| LRT score | 0.016 (Tolerated) |
| MutationTaster score | 0.585 (Tolerated) |
| MutatioinAssessor score | 2.24 (Deleterious) |
| PROVEAN score | -4.7 (Deleterious) |
| MetaSVM score | -0.377 (Tolerated) |
| MetaLR score | 0.276 (Tolerated) |
| MCAP score | 0.037 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 6.08 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.674 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.28 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.595 |
| Deleterious probability by iFish2 | 0.9515 (Deleterious) |
| Deleterious probability by DeFine | 0.8816 (Deleterious) |
| Entrez Gene ID | 157695 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TDRP (GeneCards) |
| Number of variants in TDRP in this database | 4 (view all the variants) |
| Full name | testis development related protein |
| Band | 8p23.3 |
| Other IDs | Vega: OTTHUMG00000163593 HGNC: HGNC:26951 Ensembl: ENSG00000180190 |
| Other names | Inm01, TDRP1, TDRP2, C8orf42 |
| Summary | None |
| Individual ID | 28765789.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28765789 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Gender Dysphoria (view all the variants in this disease) |
| OMIM ID | 138249 |
| Pubmed ID | 28765789 |
|---|---|
| Title | Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease. |
| Journal | Human Genome Variation |
| Publication date | 2017.07 |
| Disease | Gender Dysphoria |
| Number of cases | Male cases: 1; |