| Variant ID | 16840 |
|---|---|
| Entrez Gene ID | 3071 |
| Gene | NCKAP1L (GeneCards) |
| Location | hg19 12:54931529-54931529
hg38 12:54537745-54537745 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.54931529 G>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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0496 |
| CADD Raw score (version 1.3) | -0.037412 (Deleterious) |
| FATHMM raw prediction score | 0.16736 (Tolerated) |
| Deleterious probability by DeFine | 0.2976 (Neutral) |
| Entrez Gene ID | 3071 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NCKAP1L (GeneCards) |
| Number of variants in NCKAP1L in this database | 2 (view all the variants) |
| Full name | NCK associated protein 1 like |
| Band | 12q13.13-q13.2 |
| Other IDs | Vega: OTTHUMG00000169843 OMIM: 141180 HGNC: HGNC:4862 Ensembl: ENSG00000123338 |
| Other names | HEM1 |
| Summary | This gene encodes a member of the HEM family of tissue-specific transmembrane proteins which are highly conserved from invertebrates through mammals. This gene is only expressed in hematopoietic cells. The encoded protein is a part of the Scar/WAVE complex which plays an important role in regulating cell shape in both metazoans and plants. Alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, May 2010] |
| Individual ID | 29217584.15 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |