| Variant ID | 29369 |
|---|---|
| Entrez Gene ID | 2688 |
| Gene | GH1 (GeneCards) |
| Location | hg19 17:61994789-61994789
hg38 17:63917429-63917429 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000017.10:g.61994789 G>C (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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.9169 |
| CADD Raw score (version 1.3) | 0.595007 (Deleterious) |
| FATHMM raw prediction score | 0.04598 (Tolerated) |
| SIFT score | 0.056 (Tolerated) |
| LRT score | 0.425 (Tolerated) |
| MutationTaster score | 0.576 (Deleterious) |
| PROVEAN score | -3.49 (Deleterious) |
| MetaSVM score | -0.387 (Tolerated) |
| MetaLR score | 0.529 (Deleterious) |
| MCAP score | 0.023 (Tolerated) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -0.06 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.563 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 7.499 |
| Deleterious probability by iFish2 | 0.0252 (Neutral) |
| Deleterious probability by DeFine | 0.6044 (Deleterious) |
| Entrez Gene ID | 2688 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GH1 (GeneCards) |
| Number of variants in GH1 in this database | 3 (view all the variants) |
| Full name | growth hormone 1 |
| Band | 17q23.3 |
| Other IDs | Vega: OTTHUMG00000172293 OMIM: 139250 HGNC: HGNC:4261 Ensembl: ENSG00000259384 |
| Other names | GH, GHN, GH-N, GHB5, hGH-N, IGHD1B |
| Summary | The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed in the pituitary but not in placental tissue as is the case for the other four genes in the growth hormone locus. Mutations in or deletions of the gene lead to growth hormone deficiency and short stature. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.45 (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; |