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TRAV6 |
Gene Facts External Data Attribution
- HGNC Symbol
- TRAV6 (HGNC:12144) HGNC Entrez Ensembl UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- T cell receptor alpha variable 6
- Gene type
- other
- Locus type
- T cell receptor gene
- Previous symbols
- TCRAV5S1
- Alias symbols
- No aliases found
- %HI
- 0(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- Cytoband
- 14q11.2
- Genomic Coordinates
-
GRCh37/hg19: chr14:22236793-22237320 NCBI Ensembl UCSC GRCh38/hg38: chr14:21768553-21769080 NCBI Ensembl UCSC - Function
- V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Bin... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-27319
Curation Status:
Reopened
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Reopened
Triplosensitivity:
Reopened
Last Evaluated:
Reopened
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000014.8)
(NC_000014.9)
