| Variant ID | 780 |
|---|---|
| Entrez Gene ID | 3898 |
| Gene | LAD1 (GeneCards) |
| Location | hg19 1:201356068-201356068
hg38 1:201386940-201386940 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000001.10:g.201356068 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 141 |
| Amino acid changes in protein | P > S |
| 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 |
|---|---|
| Variant IDs in COSMIC (version 89) | 5914685 |
| Variant occurences in COSMIC | 1(skin) |
| EIGEN score | -0.4693 |
| CADD Raw score (version 1.3) | 1.676913 (Deleterious) |
| FATHMM raw prediction score | 0.0546 (Tolerated) |
| SIFT score | 0.372 (Tolerated) |
| LRT score | 0.691 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 2.36 (Deleterious) |
| PROVEAN score | -2.23 (Tolerated) |
| MetaSVM score | -1.035 (Tolerated) |
| MetaLR score | 0.035 (Tolerated) |
| MCAP score | 0.005 (Tolerated) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.61 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.631 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 4.168 |
| Deleterious probability by iFish2 | 0.049 (Neutral) |
| Deleterious probability by DeFine | 0.868 (Deleterious) |
| Entrez Gene ID | 3898 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LAD1 (GeneCards) |
| Number of variants in LAD1 in this database | 2 (view all the variants) |
| Full name | ladinin 1 |
| Band | 1q32.1 |
| Other IDs | Vega: OTTHUMG00000035737 OMIM: 602314 HGNC: HGNC:6472 Ensembl: ENSG00000159166 |
| Other names | LadA |
| Summary | The protein encoded by this gene may be an anchoring filament that is a component of basement membranes. It may contribute to the stability of the association of the epithelial layers with the underlying mesenchyme. [provided by RefSeq, Jul 2008] |
| Individual ID | 27788131.01 (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; |