| Variant ID | 22300 |
|---|---|
| Entrez Gene ID | 90316 |
| Gene | TGIF2LX (GeneCards) |
| Location | hg19 X:89522627-89522627
hg38 X:90267628-90267628 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.89522627 T>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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0.0009 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs190489584 |
| CADD Raw score (version 1.3) | 0.204602 (Deleterious) |
| FATHMM raw prediction score | 0.09423 (Tolerated) |
| Deleterious probability by DeFine | 0.345 (Neutral) |
| Entrez Gene ID | 90316 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TGIF2LX (GeneCards) |
| Number of variants in TGIF2LX in this database | 13 (view all the variants) |
| Full name | TGFB induced factor homeobox 2 like X-linked |
| Band | Xq21.31 |
| Other IDs | Vega: OTTHUMG00000021954 OMIM: 300411 HGNC: HGNC:18570 Ensembl: ENSG00000153779 |
| Other names | TGIFLX |
| Summary | This gene encodes a member of the TALE/TGIF homeobox family of transcription factors. Testis-specific expression suggests that this gene may play a role in spermatogenesis. A homolog of this gene lies within the male specific region of chromosome Y, in a block of sequence that is thought to be the result of a large X-to-Y transposition. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |