| Variant ID | 26797 |
|---|---|
| Entrez Gene ID | 4010 |
| Gene | LMX1B (GeneCards) |
| Location | hg19 9:129430465-129430465
hg38 9:126668186-126668186 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000009.11:g.129430465 C>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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3268 |
| CADD Raw score (version 1.3) | 0.252606 (Deleterious) |
| FATHMM raw prediction score | 0.25954 (Tolerated) |
| Deleterious probability by DeFine | 0.6925 (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 | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |