| Variant ID | 17058 |
|---|---|
| Entrez Gene ID | 55885 |
| Gene | LMO3 (GeneCards) |
| Location | hg19 12:16960872-16960872
hg38 12:16807938-16807938 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.16960872 A>G (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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4373 |
| CADD Raw score (version 1.3) | 0.931401 (Deleterious) |
| FATHMM raw prediction score | 0.81044 (Tolerated) |
| Deleterious probability by DeFine | 0.0951 (Neutral) |
| Entrez Gene ID | 55885 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LMO3 (GeneCards) |
| Number of variants in LMO3 in this database | 4 (view all the variants) |
| Full name | LIM domain only 3 |
| Band | 12p12.3 |
| Other IDs | Vega: OTTHUMG00000168837 OMIM: 180386 HGNC: HGNC:6643 Ensembl: ENSG00000048540 |
| Other names | RBTN3, RHOM3, RBTNL2, Rhom-3 |
| Summary | The protein encoded by this gene belongs to the rhombotin family of cysteine-rich LIM domain oncogenes. This gene is predominantly expressed in the brain. Related family members, LMO1 and LMO2 on chromosome 11, have been reported to be involved in chromosomal translocations in T-cell leukemia. Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |