| Variant ID | 18623 |
|---|---|
| Entrez Gene ID | 2581 |
| Gene | GALC (GeneCards) |
| Location | hg19 14:88408301-88408301
hg38 14:87941957-87941957 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.88408301 C>T (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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3172 |
| CADD Raw score (version 1.3) | 0.300071 (Deleterious) |
| FATHMM raw prediction score | 0.22602 (Tolerated) |
| Deleterious probability by DeFine | 0.4452 (Neutral) |
| Entrez Gene ID | 2581 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GALC (GeneCards) |
| Number of variants in GALC in this database | 1 (view all the variants) |
| Full name | galactosylceramidase |
| Band | 14q31.3 |
| Other IDs | Vega: OTTHUMG00000028646 OMIM: 606890 HGNC: HGNC:4115 Ensembl: ENSG00000054983 |
| Other names | None |
| Summary | This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |