| Variant ID | 29892 |
|---|---|
| Entrez Gene ID | 23524 |
| Gene | SRRM2 (GeneCards) |
| Location | hg19 16:2818164-2818164
hg38 16:2768163-2768163 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000016.9:g.2818164 T>A (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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -1.4532 |
| CADD Raw score (version 1.3) | -1.367235 (Deleterious) |
| FATHMM raw prediction score | 0.04049 (Tolerated) |
| Deleterious probability by DeFine | 0.9176 (Deleterious) |
| Entrez Gene ID | 23524 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SRRM2 (GeneCards) |
| Number of variants in SRRM2 in this database | 2 (view all the variants) |
| Full name | serine/arginine repetitive matrix 2 |
| Band | 16p13.3 |
| Other IDs | Vega: OTTHUMG00000177358 OMIM: 606032 HGNC: HGNC:16639 Ensembl: ENSG00000167978 |
| Other names | CWF21, Cwc21, 300-KD, SRL300, SRm300, HSPC075 |
| Summary | None |
| Individual ID | 28867142.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male 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; |