| Variant ID | 1097 |
|---|---|
| Entrez Gene ID | 8521 |
| Gene | GCM1 (GeneCards) |
| Location | hg19 6:52993388-52993388
hg38 6:53128590-53128590 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000006.11:g.52993388 A>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 309 |
| Amino acid changes in protein | A > A |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4626 |
| CADD Raw score (version 1.3) | -1.258317 (Deleterious) |
| FATHMM raw prediction score | 0.28168 (Tolerated) |
| Deleterious probability by DeFine | 0.8693 (Deleterious) |
| Entrez Gene ID | 8521 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GCM1 (GeneCards) |
| Number of variants in GCM1 in this database | 4 (view all the variants) |
| Full name | glial cells missing homolog 1 |
| Band | 6p12.1 |
| Other IDs | Vega: OTTHUMG00000014871 OMIM: 603715 HGNC: HGNC:4197 Ensembl: ENSG00000137270 |
| Other names | GCMA, hGCMa |
| Summary | This gene encodes a DNA-binding protein with a gcm-motif (glial cell missing motif). The encoded protein is a homolog of the Drosophila glial cells missing gene (gcm). This protein binds to the GCM-motif (A/G)CCCGCAT, a novel sequence among known targets of DNA-binding proteins. The N-terminal DNA-binding domain confers the unique DNA-binding activity of this protein. [provided by RefSeq, Jul 2008] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |