| Variant ID | 15851 |
|---|---|
| Entrez Gene ID | 2965 |
| Gene | GTF2H1 (GeneCards) |
| Location | hg19 11:18355079-18355079
hg38 11:18333532-18333532 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.18355079 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2489 |
| CADD Raw score (version 1.3) | 0.018188 (Deleterious) |
| FATHMM raw prediction score | 0.25597 (Tolerated) |
| Deleterious probability by DeFine | 0.5933 (Deleterious) |
| Entrez Gene ID | 2965 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GTF2H1 (GeneCards) |
| Number of variants in GTF2H1 in this database | 3 (view all the variants) |
| Full name | general transcription factor IIH subunit 1 |
| Band | 11p15.1 |
| Other IDs | Vega: OTTHUMG00000167690 OMIM: 189972 HGNC: HGNC:4655 Ensembl: ENSG00000110768 |
| Other names | P62, BTF2, TFB1, TFIIH |
| Summary | None |
| Individual ID | 29217584.18 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male 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; |