| Variant ID | 11362 |
|---|---|
| Entrez Gene ID | 30010 |
| Gene | NXPH1 (GeneCards) |
| Location | hg19 7:8704915-8704915
hg38 7:8665285-8665285 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.8704915 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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2275 |
| CADD Raw score (version 1.3) | 0.429317 (Deleterious) |
| FATHMM raw prediction score | 0.08981 (Tolerated) |
| Deleterious probability by DeFine | 0.0547 (Neutral) |
| Entrez Gene ID | 30010 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NXPH1 (GeneCards) |
| Number of variants in NXPH1 in this database | 14 (view all the variants) |
| Full name | neurexophilin 1 |
| Band | 7p21.3 |
| Other IDs | Vega: OTTHUMG00000151941 OMIM: 604639 HGNC: HGNC:20693 Ensembl: ENSG00000122584 |
| Other names | NPH1, Nbla00697 |
| Summary | This gene is a member of the neurexophilin family and encodes a secreted protein with a variable N-terminal domain, a highly conserved, N-glycosylated central domain, a short linker region, and a cysteine-rich C-terminal domain. This protein forms a very tight complex with alpha neurexins, a group of proteins that promote adhesion between dendrites and axons. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.17 (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; |