| Variant ID | 2803 |
|---|---|
| Entrez Gene ID | 55277 |
| Gene | FGGY (GeneCards) |
| Location | hg19 1:60057372-60057372
hg38 1:59591700-59591700 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.60057372 A>G (Genome Assembly: GRCh37) |
| 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) | 0.00009687 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs185707905 |
| EIGEN score | -0.2611 |
| CADD Raw score (version 1.3) | 0.06362 (Deleterious) |
| FATHMM raw prediction score | 0.07363 (Tolerated) |
| Deleterious probability by DeFine | 0.0571 (Neutral) |
| Entrez Gene ID | 55277 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FGGY (GeneCards) |
| Number of variants in FGGY in this database | 5 (view all the variants) |
| Full name | FGGY carbohydrate kinase domain containing |
| Band | 1p32.1 |
| Other IDs | Vega: OTTHUMG00000008424 OMIM: 611370 HGNC: HGNC:25610 Ensembl: ENSG00000172456 |
| Other names | None |
| Summary | This gene encodes a protein that phosphorylates carbohydrates such as ribulose, ribitol, and L-arabinitol. Genome-wide association studies in some populations have found an association between polymorphisms in this gene and sporadic amyotrophic lateral sclerosis, but studies of other populations have not been able to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] |
| Individual ID | 29217584.22 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |