| Variant ID | 984 |
|---|---|
| Entrez Gene ID | 23218 |
| Gene | NBEAL2 (GeneCards) |
| Location | hg19 3:47047832-47047832
hg38 3:47006342-47006342 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000003.11:g.47047832 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 2343 |
| Amino acid changes in protein | P > S |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5989 |
| CADD Raw score (version 1.3) | 6.398663 (Deleterious) |
| FATHMM raw prediction score | 0.97854 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.535 (Deleterious) |
| PROVEAN score | -7.17 (Deleterious) |
| MetaSVM score | 0.454 (Deleterious) |
| MetaLR score | 0.6 (Deleterious) |
| MCAP score | 0.252 (Deleterious) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.7 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.34 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.166 |
| Deleterious probability by iFish2 | 0.9957 (Deleterious) |
| Deleterious probability by DeFine | 0.9729 (Deleterious) |
| Entrez Gene ID | 23218 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NBEAL2 (GeneCards) |
| Number of variants in NBEAL2 in this database | 2 (view all the variants) |
| Full name | neurobeachin like 2 |
| Band | 3p21.31 |
| Other IDs | Vega: OTTHUMG00000156497 OMIM: 614169 HGNC: HGNC:31928 Ensembl: ENSG00000160796 |
| Other names | GPS, BDPLT4 |
| Summary | The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome. [provided by RefSeq, Dec 2011] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |