| Variant ID | 29188 |
|---|---|
| Entrez Gene ID | 9019 |
| Gene | MPZL1 (GeneCards) |
| Location | hg19 1:167745396-167745396
hg38 1:167776159-167776159 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000001.10:g.167745396 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | Exon |
|---|---|
| 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 |
|---|---|
| EIGEN score | 0.0724 |
| CADD Raw score (version 1.3) | 6.428003 (Deleterious) |
| FATHMM raw prediction score | 0.84077 (Tolerated) |
| SIFT score | 0.017 (Deleterious) |
| MutationTaster score | 0.971 (Deleterious) |
| MutatioinAssessor score | 0.895 (Tolerated) |
| PROVEAN score | -1.66 (Tolerated) |
| MetaSVM score | 0.408 (Deleterious) |
| MetaLR score | 0.674 (Deleterious) |
| MCAP score | 0.075 (Deleterious) |
| FitCons score | 0.722 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.36 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.094 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.446 |
| Deleterious probability by iFish2 | 0.1398 (Neutral) |
| Deleterious probability by DeFine | 0.9301 (Deleterious) |
| 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 | 28503910.65 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |