| Variant ID | 23003 |
|---|---|
| Entrez Gene ID | 51617 |
| Gene | HMP19 (GeneCards) |
| Location | hg19 5:173761230-173761230
hg38 5:174334227-174334227 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000005.9:g.173761230 G>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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3016 |
| CADD Raw score (version 1.3) | -0.433857 (Deleterious) |
| FATHMM raw prediction score | 0.07993 (Tolerated) |
| Deleterious probability by DeFine | 0.4702 (Neutral) |
| Entrez Gene ID | 51617 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HMP19 (GeneCards) |
| Number of variants in NSG2 in this database | 4 (view all the variants) |
| Full name | neuronal vesicle trafficking associated 2 |
| Band | 5q35.2 |
| Other IDs | Vega: OTTHUMG00000130543 OMIM: 616752 HGNC: HGNC:24955 Ensembl: ENSG00000170091 |
| Other names | CALY3, HMP19 |
| 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; |