| Variant ID | 1124 |
|---|---|
| Entrez Gene ID | 84439 |
| Gene | HHIPL1 (GeneCards) |
| Location | hg19 14:100118910-100118910
hg38 14:99652573-99652573 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000014.8:g.100118910 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 202 |
| Amino acid changes in protein | A > V |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003232 |
|---|---|
| EIGEN score | 0.7229 |
| CADD Raw score (version 1.3) | 5.625025 (Deleterious) |
| FATHMM raw prediction score | 0.98368 (Tolerated) |
| SIFT score | 0.014 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.23 (Deleterious) |
| PROVEAN score | -3.56 (Deleterious) |
| MetaSVM score | -0.854 (Tolerated) |
| MetaLR score | 0.129 (Tolerated) |
| MCAP score | 0.059 (Deleterious) |
| FitCons score | 0.701 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.83 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.866 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.94 |
| Deleterious probability by iFish2 | 0.8882 (Deleterious) |
| Deleterious probability by DeFine | 0.9751 (Deleterious) |
| Entrez Gene ID | 84439 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HHIPL1 (GeneCards) |
| Number of variants in HHIPL1 in this database | 1 (view all the variants) |
| Full name | HHIP like 1 |
| Band | 14q32.2 |
| Other IDs | Vega: OTTHUMG00000171509 HGNC: HGNC:19710 Ensembl: ENSG00000182218 |
| Other names | UNQ9245, KIAA1822 |
| Summary | This gene encodes a protein that belongs to the glucose/sorbosone dehydrogenase family. The encoded protein also contains a domain that binds folate and reduced folic acid derivatives. [provided by RefSeq, Jul 2016] |
| 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; |