| Variant ID | 22941 |
|---|---|
| Entrez Gene ID | 10144 |
| Gene | FAM13A (GeneCards) |
| Location | hg19 4:89705120-89705120
hg38 4:88783969-88783969 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000004.11:g.89705120 C>T (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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003233 |
|---|---|
| EIGEN score | 0.0232 |
| CADD Raw score (version 1.3) | 0.115892 (Deleterious) |
| FATHMM raw prediction score | 0.14663 (Tolerated) |
| Deleterious probability by DeFine | 0.355 (Neutral) |
| Entrez Gene ID | 10144 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FAM13A (GeneCards) |
| Number of variants in FAM13A in this database | 5 (view all the variants) |
| Full name | family with sequence similarity 13 member A |
| Band | 4q22.1 |
| Other IDs | Vega: OTTHUMG00000161006 OMIM: 613299 HGNC: HGNC:19367 Ensembl: ENSG00000138640 |
| Other names | FAM13A1, ARHGAP48 |
| 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; |