Variant ID | 16963 |
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Entrez Gene ID | 121549 |
Gene | ASCL4 (GeneCards) |
Location | hg19 12:108179808-108179808
hg38 12:107786031-107786031 |
Disease | Cockayne syndrome (view all the variants in this disease) |
Method | HiSeq X Ten |
Mutation(HGVS format) | NC_000012.11:g.108179808 G>A (Genome Assembly: GRCh37) |
Exon or Intron | NA |
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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 | 133851895 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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EIGEN score | -0.2908 |
CADD Raw score (version 1.3) | -0.104943 (Deleterious) |
FATHMM raw prediction score | 0.07934 (Tolerated) |
Deleterious probability by DeFine | 0.0683 (Neutral) |
Entrez Gene ID | 121549 (NCBI Gene) |
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Official Gene Symbol | ASCL4 (GeneCards) |
Number of variants in ASCL4 in this database | 5 (view all the variants) |
Full name | achaete-scute family bHLH transcription factor 4 |
Band | 12q23.3 |
Other IDs | Vega: OTTHUMG00000156964 OMIM: 609155 HGNC: HGNC:24311 Ensembl: ENSG00000187855 |
Other names | HASH4, bHLHa44 |
Summary | Basic helix-loop-helix transcription factors, such as ASCL4, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008] |
Individual ID | 29217584.19 (view all the variants in this individual) |
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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 |
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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; |