| Variant ID | 1740 |
|---|---|
| Entrez Gene ID | 126969 |
| Gene | SLC44A3 (GeneCards) |
| Location | hg19 1:95294091-95294091
hg38 1:94828535-94828535 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.95294091 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2085 |
| CADD Raw score (version 1.3) | 2.119913 (Deleterious) |
| FATHMM raw prediction score | 0.93739 (Tolerated) |
| SIFT score | 0.009 (Deleterious) |
| LRT score | 0.008 (Tolerated) |
| MutationTaster score | 0.998 (Deleterious) |
| MutatioinAssessor score | 1.535 (Tolerated) |
| PROVEAN score | -3.3 (Deleterious) |
| MetaSVM score | -0.489 (Tolerated) |
| MetaLR score | 0.281 (Tolerated) |
| MCAP score | 0.058 (Deleterious) |
| FitCons score | 0.615 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.12 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.877 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.997 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 12.168 |
| Deleterious probability by iFish2 | 0.0608 (Neutral) |
| Deleterious probability by DeFine | 0.8825 (Deleterious) |
| Entrez Gene ID | 126969 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLC44A3 (GeneCards) |
| Number of variants in SLC44A3 in this database | 2 (view all the variants) |
| Full name | solute carrier family 44 member 3 |
| Band | 1p21.3 |
| Other IDs | Vega: OTTHUMG00000010700 HGNC: HGNC:28689 Ensembl: ENSG00000143036 |
| Other names | CTL3 |
| Summary | None |
| Individual ID | 29217584.04 (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; |