| Variant ID | 29297 |
|---|---|
| Entrez Gene ID | 25844 |
| Gene | YIPF3 (GeneCards) |
| Location | hg19 6:43479853-43479853
hg38 6:43512115-43512115 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000006.11:g.43479853 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | 3UTR |
|---|---|
| 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 |
|---|---|
| EIGEN score | 1.3734 |
| CADD Raw score (version 1.3) | 2.050983 (Deleterious) |
| FATHMM raw prediction score | 0.92655 (Tolerated) |
| Deleterious probability by DeFine | 0.9286 (Deleterious) |
| Entrez Gene ID | 25844 (NCBI Gene) |
|---|---|
| Official Gene Symbol | YIPF3 (GeneCards) |
| Number of variants in YIPF3 in this database | 2 (view all the variants) |
| Full name | Yip1 domain family member 3 |
| Band | 6p21.1 |
| Other IDs | Vega: OTTHUMG00000014738 OMIM: 609775 HGNC: HGNC:21023 Ensembl: ENSG00000137207 |
| Other names | KLIP1, FinGER3, C6orf109, dJ337H4.3 |
| Summary | None |
| Individual ID | 28503910.174 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |