| Variant ID | 29795 |
|---|---|
| Entrez Gene ID | 79683 |
| Gene | ZDHHC14 (GeneCards) |
| Location | hg19 6:158014147-158014147
hg38 6:157593115-157593115 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000006.11:g.158014147 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0.0004 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs141376335 |
| EIGEN score | 0.2993 |
| CADD Raw score (version 1.3) | 2.07625 (Deleterious) |
| FATHMM raw prediction score | 0.99325 (Tolerated) |
| Deleterious probability by DeFine | 0.9487 (Deleterious) |
| Entrez Gene ID | 79683 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZDHHC14 (GeneCards) |
| Number of variants in ZDHHC14 in this database | 4 (view all the variants) |
| Full name | zinc finger DHHC-type containing 14 |
| Band | 6q25.3 |
| Other IDs | Vega: OTTHUMG00000015896 HGNC: HGNC:20341 Ensembl: ENSG00000175048 |
| Other names | NEW1CP |
| Summary | None |
| Individual ID | 28867142.39 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |