| Variant ID | 781 |
|---|---|
| Entrez Gene ID | 3898 |
| Gene | LAD1 (GeneCards) |
| Location | hg19 1:201356069-201356069
hg38 1:201386941-201386941 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000001.10:g.201356069 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 140 |
| Amino acid changes in protein | I > I |
| 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 | 0.4257 |
| CADD Raw score (version 1.3) | 0.321295 (Deleterious) |
| FATHMM raw prediction score | 0.16435 (Tolerated) |
| Deleterious probability by DeFine | 0.7443 (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; |