| Variant ID | 24415 |
|---|---|
| Entrez Gene ID | 9019 |
| Gene | MPZL1 (GeneCards) |
| Location | hg19 1:167718906-167718906
hg38 1:167749669-167749669 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000001.10:g.167718906 G>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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0.4129 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs4145461 |
| EIGEN score | -0.0418 |
| CADD Raw score (version 1.3) | -0.163771 (Deleterious) |
| FATHMM raw prediction score | 0.14366 (Tolerated) |
| Deleterious probability by DeFine | 0.2562 (Neutral) |
| Entrez Gene ID | 9019 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MPZL1 (GeneCards) |
| Number of variants in MPZL1 in this database | 3 (view all the variants) |
| Full name | myelin protein zero like 1 |
| Band | 1q24.2 |
| Other IDs | Vega: OTTHUMG00000034571 OMIM: 604376 HGNC: HGNC:7226 Ensembl: ENSG00000197965 |
| Other names | PZR, PZRa, PZRb, PZR1b, MPZL1b |
| Summary | None |
| Individual ID | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |