| Variant ID | 1421 |
|---|---|
| Entrez Gene ID | 4010 |
| Gene | LMX1B (GeneCards) |
| Location | hg19 9:129456125-129456125
hg38 9:126693846-126693846 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | Hiseq |
| Mutation(HGVS format) | NC_000009.11:g.129456125_129456125 del (Genome Assembly: GRCh37) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_001174147.1 |
| mRNA length | 5804 |
| Reference length | 141213431 |
| Deleterious probability by DeFine | 0.6926 (Deleterious) |
|---|
| Entrez Gene ID | 4010 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LMX1B (GeneCards) |
| Number of variants in LMX1B in this database | 2 (view all the variants) |
| Full name | LIM homeobox transcription factor 1 beta |
| Band | 9q33.3 |
| Other IDs | Vega: OTTHUMG00000020692 OMIM: 602575 HGNC: HGNC:6654 Ensembl: ENSG00000136944 |
| Other names | NPS1, LMX1.2 |
| Summary | This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] |
| Individual ID | 28235832.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28235832 |
| Whose mosaic mutation | Male Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28235832 |
|---|---|
| Title | One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin. |
| Journal | Genome Research |
| Publication date | 2017.04 |
| Disease | Autism Spectrum Disorders |
| Number of cases | Male cases: 3; cases of unknown sex: 1; |