| Variant ID | 19558 |
|---|---|
| Entrez Gene ID | 2975 |
| Gene | GTF3C1 (GeneCards) |
| Location | hg19 16:27553073-27553073
hg38 16:27541752-27541752 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000016.9:g.27553073 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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0.003 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs147697722 |
| EIGEN score | -0.3575 |
| CADD Raw score (version 1.3) | 0.12485 (Deleterious) |
| FATHMM raw prediction score | 0.06893 (Tolerated) |
| Deleterious probability by DeFine | 0.4054 (Neutral) |
| Entrez Gene ID | 2975 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GTF3C1 (GeneCards) |
| Number of variants in GTF3C1 in this database | 2 (view all the variants) |
| Full name | general transcription factor IIIC subunit 1 |
| Band | 16p12.1 |
| Other IDs | Vega: OTTHUMG00000176805 OMIM: 603246 HGNC: HGNC:4664 Ensembl: ENSG00000077235 |
| Other names | TFIIIC, TFIIIC220, TFIIICalpha |
| 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; |