LRTOMT leucine rich transmembrane and O-methyltransferase domain containing
Gene ID: 220074, updated on 17-Sep-2024Gene type: protein coding
Also known as: TOMT; DFNB63; LRRC51; CFAP111; LRRC51-TOMT
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- Go to complete Gene record for LRTOMT
- Go to Variation Viewer for LRTOMT variants
Summary
This locus represents naturally occurring readthrough transcription between the neighboring LRRC51 (leucine-rich repeat containing 51) and TOMT (transmembrane O-methyltransferase) genes on chromosome 11. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. Multiple reports implicate mutations in this gene in nonsyndromic deafness.[provided by RefSeq, Feb 2021]
Associated conditions
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Description | Tests |
---|---|
Autosomal recessive nonsyndromic hearing loss 63 | See labs |
Genomic context
- Location:
- 11q13.4
- Sequence:
- Chromosome: 11; NC_000011.10 (72080850..72110782)
- Total number of exons:
- 9
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for LRTOMT variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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