| Variant ID | 1028 |
|---|---|
| Entrez Gene ID | 348094 |
| Gene | ANKDD1A (GeneCards) |
| Location | hg19 15:65249460-65249460
hg38 15:64957121-64957121 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000015.9:g.65249460 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 501 |
| Amino acid changes in protein | R > K |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -1.7112 |
| CADD Raw score (version 1.3) | -1.916675 (Deleterious) |
| FATHMM raw prediction score | 0.00225 (Tolerated) |
| SIFT score | 0.772 (Tolerated) |
| LRT score | 0.216 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0 (Tolerated) |
| PROVEAN score | 0.11 (Tolerated) |
| MetaSVM score | -0.992 (Tolerated) |
| MetaLR score | 0.024 (Tolerated) |
| MCAP score | 0.001 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -0.47 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.518 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.002 |
| Deleterious probability by iFish2 | 0.001 (Neutral) |
| Deleterious probability by DeFine | 0.1654 (Neutral) |
| Entrez Gene ID | 348094 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ANKDD1A (GeneCards) |
| Number of variants in ANKDD1A in this database | 1 (view all the variants) |
| Full name | ankyrin repeat and death domain containing 1A |
| Band | 15q22.31 |
| Other IDs | Vega: OTTHUMG00000133051 HGNC: HGNC:28002 Ensembl: ENSG00000166839 |
| Other names | None |
| Summary | None |
| 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; |