| Variant ID | 144 |
|---|---|
| Entrez Gene ID | 2688 |
| Gene | GH1 (GeneCards) |
| Location | hg19 17:61995219-61995219
hg38 17:63917859-63917859 |
| Disease | Isolated growth hormone deficiency type2 (view all the variants in this disease) |
| Method | ABI3100 |
| Mutation(HGVS format) | NC_000017.10:g.61995219 T>A (Genome Assembly: hg19) |
| Exon or Intron | Intron |
|---|---|
| Exon number | 3 |
| Exon nc | 4 |
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | 246 |
| Changes in cDNA | A > T |
| mRNA accession | NM_022559.2 |
| mRNA length | 609 |
| Reference length | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 1303188 |
| Variant occurences in COSMIC | 1(urinary_tract) |
| EIGEN score | 0.6884 |
| CADD Raw score (version 1.3) | 0.12575 (Deleterious) |
| FATHMM raw prediction score | 0.91977 (Tolerated) |
| Deleterious probability by DeFine | 0.6855 (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 | 21933221.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 21933221 |
| Whose mosaic mutation | Father |
| Phenotype | 1 |
| Number of affected children | 2 ( male: 1; female: 1; ) |
| Disease | Isolated growth hormone deficiency type2 (view all the variants in this disease) |
| OMIM ID | 173100 |
| Pubmed ID | 21933221 |
|---|---|
| Title | Isolated growth hormone deficiency in two siblings because of paternal mosaicism for a mutation in the GH1 gene |
| Journal | Clinical Endocrinology |
| Publication date | 2012.03 |
| Disease | Isolated growth hormone deficiency type2 |
| Number of cases | Male cases: 1; |