| Variant ID | 29424 |
|---|---|
| Entrez Gene ID | 343069 |
| Gene | HNRNPCL1 (GeneCards) |
| Location | hg19 1:12907860-12907860
hg38 1:12848007-12848007 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000001.10:g.12907860 C>T (Genome Assembly: hg19) |
| 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) | 0.0000323 |
|---|---|
| Variant IDs in COSMIC (version 89) | 1256591 |
| Variant occurences in COSMIC | 1(stomach)|1(upper_aerodigestive_tract) |
| EIGEN score | -1.4558 |
| CADD Raw score (version 1.3) | -0.264553 (Deleterious) |
| FATHMM raw prediction score | 0.00304 (Tolerated) |
| SIFT score | 0.336 (Tolerated) |
| LRT score | 0.088 |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.11 (Tolerated) |
| PROVEAN score | 0.22 (Tolerated) |
| MetaSVM score | -0.975 (Tolerated) |
| MetaLR score | 0.01 (Tolerated) |
| MCAP score | 0.001 (Tolerated) |
| FitCons score | 0.638 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -1.91 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.135 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.909 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 1.919 |
| Deleterious probability by iFish2 | 0.005 (Neutral) |
| Deleterious probability by DeFine | 0.3054 (Neutral) |
| Entrez Gene ID | 343069 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HNRNPCL1 (GeneCards) |
| Number of variants in HNRNPCL1 in this database | 1 (view all the variants) |
| Full name | heterogeneous nuclear ribonucleoprotein C-like 1 |
| Band | 1p36.21 |
| Other IDs | Vega: OTTHUMG00000001931 HGNC: HGNC:29295 Ensembl: ENSG00000179172 |
| Other names | HNRPCL1 |
| Summary | None |
| Individual ID | 28714951.100 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |