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TMC1 |
Gene Facts External Data Attribution
- HGNC Symbol
- TMC1 (HGNC:16513) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- transmembrane channel like 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- DFNA36, DFNB7, DFNB11
- Alias symbols
- No aliases found
- %HI
- 17.43(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.92(Read more about gnomAD LOEUF score)
- Cytoband
- 9q21.13
- Genomic Coordinates
-
GRCh37/hg19: chr9:75136524-75453213 NCBI Ensembl UCSC GRCh38/hg38: chr9:72521608-72838297 NCBI Ensembl UCSC - MANE Select Transcript
- NM_138691.3 ENST00000297784.10 (Read more about MANE Select)
- Function
- Probable ion channel required for the normal function of cochlear hair cells. {ECO:0000250|UniProtKB:Q8R4P5}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-33684
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000009.11)
(NC_000009.12)
