| Variant ID | 22289 |
|---|---|
| Entrez Gene ID | 57502 |
| Gene | NLGN4X (GeneCards) |
| Location | hg19 X:6262211-6262211
hg38 X:6344170-6344170 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.6262211 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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -0.03282 (Deleterious) |
| FATHMM raw prediction score | 0.09914 (Tolerated) |
| Deleterious probability by DeFine | 0.4897 (Neutral) |
| Entrez Gene ID | 57502 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NLGN4X (GeneCards) |
| Number of variants in NLGN4X in this database | 3 (view all the variants) |
| Full name | neuroligin 4 X-linked |
| Band | Xp22.32-p22.31 |
| Other IDs | Vega: OTTHUMG00000021093 OMIM: 300427 HGNC: HGNC:14287 Ensembl: ENSG00000146938 |
| Other names | HLNX, HNL4X, NLGN4, ASPGX2, AUTSX2 |
| Summary | This gene encodes a member of the type-B carboxylesterase/lipase protein family. The encoded protein belongs to a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. The encoded protein interacts with discs large homolog 4 (DLG4). Mutations in this gene have been associated with autism and Asperger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] |
| Individual ID | 29217584.16 (view all the variants in this individual) |
|---|---|
| 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 |
|---|---|
| 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; |