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TMC6 |
Gene Facts External Data Attribution
- HGNC Symbol
- TMC6 (HGNC:18021) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- transmembrane channel like 6
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- EVER1, TNRC6C-AS1
- Alias symbols
- LAK-4P, EVIN1
- %HI
- 79.04(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.02(Read more about gnomAD LOEUF score)
- Cytoband
- 17q25.3
- Genomic Coordinates
-
GRCh37/hg19: chr17:76103478-76128508 NCBI Ensembl UCSC GRCh38/hg38: chr17:78107397-78132427 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001127198.5 ENST00000590602.6 (Read more about MANE Select)
- Function
- Probable ion channel. {ECO:0000250}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-44746
ClinGen Curation ID:
CCID:008009
Curation Status:
Awaiting Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Awaiting Review
Triplosensitivity:
Awaiting Review
Last Evaluated:
Awaiting Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000017.10)
(NC_000017.11)
