| Variant ID | 24160 |
|---|---|
| Entrez Gene ID | 286499 |
| Gene | FAM133A (GeneCards) |
| Location | hg19 X:94089831-94089831
hg38 X:94834832-94834832 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000023.10:g.94089831 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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 0.086963 (Deleterious) |
| FATHMM raw prediction score | 0.08531 (Tolerated) |
| Deleterious probability by DeFine | 0.1881 (Neutral) |
| Entrez Gene ID | 286499 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FAM133A (GeneCards) |
| Number of variants in FAM133A in this database | 20 (view all the variants) |
| Full name | family with sequence similarity 133 member A |
| Band | Xq21.32 |
| Other IDs | Vega: OTTHUMG00000021975 HGNC: HGNC:26748 Ensembl: ENSG00000179083 |
| Other names | CT115 |
| Summary | None |
| Individual ID | 29217587.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217587 |
|---|---|
| Title | Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Asymptomatic |
| Number of cases | cases of unknown sex: 3; |