| Variant ID | 23299 |
|---|---|
| Entrez Gene ID | 157697 |
| Gene | ERICH1 (GeneCards) |
| Location | hg19 8:565980-565980
hg38 8:615980-615980 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000008.10:g.565980 C>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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5011 |
| CADD Raw score (version 1.3) | -0.402996 (Deleterious) |
| FATHMM raw prediction score | 0.13113 (Tolerated) |
| Deleterious probability by DeFine | 0.3033 (Neutral) |
| Entrez Gene ID | 157697 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ERICH1 (GeneCards) |
| Number of variants in ERICH1 in this database | 2 (view all the variants) |
| Full name | glutamate rich 1 |
| Band | 8p23.3 |
| Other IDs | Vega: OTTHUMG00000129163 HGNC: HGNC:27234 Ensembl: ENSG00000104714 |
| Other names | HSPC319 |
| 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; |