| Variant ID | 23588 |
|---|---|
| Entrez Gene ID | 283177 |
| Gene | LOC283177 (GeneCards) |
| Location | hg19 11:134939108-134939108
hg38 11:135069214-135069214 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000011.9:g.134939108 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 |
|---|---|
| CADD Raw score (version 1.3) | -0.356159 (Deleterious) |
| FATHMM raw prediction score | 0.04198 (Tolerated) |
| Deleterious probability by DeFine | 0.088 (Neutral) |
| Entrez Gene ID | 283177 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LOC283177 (GeneCards) |
| Number of variants in LOC283177 in this database | 11 (view all the variants) |
| Full name | uncharacterized LOC283177 |
| Band | 11q25 |
| Other IDs | None: |
| Other names | None |
| 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; |