| Variant ID | 2722 |
|---|---|
| Entrez Gene ID | 55733 |
| Gene | HHAT (GeneCards) |
| Location | hg19 1:210586015-210586015
hg38 1:210412671-210412671 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.210586015 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2735 |
| CADD Raw score (version 1.3) | 0.213052 (Deleterious) |
| FATHMM raw prediction score | 0.09359 (Tolerated) |
| Deleterious probability by DeFine | 0.1223 (Neutral) |
| Entrez Gene ID | 55733 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HHAT (GeneCards) |
| Number of variants in HHAT in this database | 8 (view all the variants) |
| Full name | hedgehog acyltransferase |
| Band | 1q32.2 |
| Other IDs | Vega: OTTHUMG00000036447 OMIM: 605743 HGNC: HGNC:18270 Ensembl: ENSG00000054392 |
| Other names | Skn, SKI1, MART2 |
| Summary | 'Skinny hedgehog' (SKI1) encodes an enzyme that acts within the secretory pathway to catalyze amino-terminal palmitoylation of 'hedgehog' (see MIM 600725).[supplied by OMIM, Jul 2002] |
| Individual ID | 29217584.20 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male 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; |