| Variant ID | 2524 |
|---|---|
| Entrez Gene ID | 55733 |
| Gene | HHAT (GeneCards) |
| Location | hg19 1:210790449-210790449
hg38 1:210617105-210617105 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.210790449 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 | 0.5269 |
| CADD Raw score (version 1.3) | 1.87027 (Deleterious) |
| FATHMM raw prediction score | 0.49541 (Tolerated) |
| Deleterious probability by DeFine | 0.4353 (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 | 29217584.15 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |