Congenital Stationary Night Blindness(Early-onset non-progressive night blindness) Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive, X-linked recessive mode(s) within the Eye disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive, X-linked recessive mode(s) within the Eye disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | GRM6/2916 | glutamate metabotropic receptor 6 | 5q35.3 | Chr5, NC_000005.10 (178978327..178995320, complement) |
16994 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | TRPM1/4308 | transient receptor potential cation channel subfamily M member 1 | 15q13.3 | Chr15, NC_000015.10 (31001065..31161160, complement) |
160096 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | NYX/60506 | nyctalopin | Xp11.4 | ChrX, NC_000023.11 (41447343..41475652) |
28310 nt | 2 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | CACNA1F/778 | calcium voltage-gated channel subunit alpha1 F | Xp11.23 | ChrX, NC_000023.11 (49205063..49233340, complement) |
28278 nt | 48 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | RHO/6010 | rhodopsin | 3q22.1 | Chr3, NC_000003.12 (129528639..129535344) |
6706 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | PDE6B/5158 | phosphodiesterase 6B | 4p16.3 | Chr4, NC_000004.12 (625573..670782) |
45210 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | GNAT1/2779 | G protein subunit alpha transducin 1 | 3p21.31 | Chr3, NC_000003.12 (50191610..50197696) |
6087 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | SLC24A1/9187 | solute carrier family 24 member 1 | 15q22.31 | Chr15, NC_000015.10 (65611350..65661002) |
49653 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | GPR179/440435 | G protein-coupled receptor 179 | 17q12 | Chr17, NC_000017.11 (38324571..38343956, complement) |
19386 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | LRIT3/345193 | leucine rich repeat, Ig-like and transmembrane domains 3 | 4q25 | Chr4, NC_000004.12 (109848107..109872315) |
24209 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | GNB3/2784 | G protein subunit beta 3 | 12p13.31 | Chr12, NC_000012.12 (6840925..6847393) |
6469 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 12 | ABCA4/24 | ATP binding cassette subfamily A member 4 | 1p22.1 | Chr1, NC_000001.11 (93992834..94121148, complement) |
128315 nt | 50 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 13 | RPGR/6103 | retinitis pigmentosa GTPase regulator | Xp11.4 | ChrX, NC_000023.11 (38269163..38327509, complement) |
58347 nt | 25 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 14 | GRK1/6011 | G protein-coupled receptor kinase 1 | 13q34 | Chr13, NC_000013.11 (113648199..113737736) |
89538 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD | ||||||||