CNGB1 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CNGB1 (HGNC:2151) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- cyclic nucleotide gated channel subunit beta 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- CNCG2, CNCG3L
- Alias symbols
- RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45
- %HI
- 68.86(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.94(Read more about gnomAD LOEUF score)
- Cytoband
- 16q21
- Genomic Coordinates
-
GRCh37/hg19: chr16:57916244-58005032 NCBI Ensembl UCSC GRCh38/hg38: chr16:57882340-57971128 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001297.5 ENST00000251102.13 (Read more about MANE Select)
- Function
- Subunit of cyclic nucleotide-gated (CNG) channels, nonselective cation channels, which play important roles in both visual and olfactory signal transduction. When associated with CNGA1, it is involved in the regulation of ion flow into the rod photoreceptor outer segment (ROS), in response to light-induced alteration of the levels of intracellular cGMP. Isoform GARP2 is a high affinity rod photoreceptor phosphodiesterase (PDE6)-binding protein that modulates its catalytic properties: it is a reg... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-15075
ClinGen Curation ID:
CCID:006886
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- retinitis pigmentosa 45 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000016.9)
(NC_000016.10)