| Variant ID | 12588 |
|---|---|
| Entrez Gene ID | 29967 |
| Gene | LRP12 (GeneCards) |
| Location | hg19 8:105808096-105808096
hg38 8:104795868-104795868 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.105808096 A>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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.4517 |
| CADD Raw score (version 1.3) | 2.429137 (Deleterious) |
| FATHMM raw prediction score | 0.97399 (Tolerated) |
| Deleterious probability by DeFine | 0.8643 (Deleterious) |
| Entrez Gene ID | 29967 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LRP12 (GeneCards) |
| Number of variants in LRP12 in this database | 11 (view all the variants) |
| Full name | LDL receptor related protein 12 |
| Band | 8q22.3 |
| Other IDs | Vega: OTTHUMG00000164892 HGNC: HGNC:31708 Ensembl: ENSG00000147650 |
| Other names | ST7 |
| Summary | This gene encodes a member of the low-density lipoprotein receptor related protein family. The product of this gene is a transmembrane protein that is differentially expressed in many cancer cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] |
| Individual ID | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |