| Variant ID | 29841 |
|---|---|
| Entrez Gene ID | 259249 |
| Gene | MRGPRX1 (GeneCards) |
| Location | hg19 11:18956116-18956116
hg38 11:18934569-18934569 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000011.9:g.18956116 G>C (Genome Assembly: hg19) |
| 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003247 |
|---|---|
| EIGEN score | 0.169 |
| CADD Raw score (version 1.3) | 3.524908 (Deleterious) |
| FATHMM raw prediction score | 0.90027 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.985 (Tolerated) |
| MutatioinAssessor score | 3.56 (Deleterious) |
| PROVEAN score | -3.98 (Deleterious) |
| MetaSVM score | 0.057 (Deleterious) |
| MetaLR score | 0.781 (Deleterious) |
| MCAP score | 0.005 (Tolerated) |
| FitCons score | 0.497 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.34 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.719 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.998 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 4.414 |
| Deleterious probability by iFish2 | 0.9342 (Deleterious) |
| Deleterious probability by DeFine | 0.7796 (Deleterious) |
| Entrez Gene ID | 259249 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MRGPRX1 (GeneCards) |
| Number of variants in MRGPRX1 in this database | 4 (view all the variants) |
| Full name | MAS related GPR family member X1 |
| Band | 11p15.1 |
| Other IDs | Vega: OTTHUMG00000162655 OMIM: 607227 HGNC: HGNC:17962 Ensembl: ENSG00000170255 |
| Other names | GPCR, MGRG2, MRGX1, SNSR4 |
| Summary | None |
| Individual ID | 28867142.11 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |