MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:12374
Name:TRITANOPIA
Definition:
Alternative IDs:DO:DOID:11661
ParentIDs:MESH:D003117
TreeNumbers:C10.597.751.941.256/190900 |C11.270.151.500/190900 |C11.966.256/190900 |C23.888.592.763.941.256/190900
Synonyms:BLUE COLORBLINDNESS |CBT |COLORBLINDNESS, TRITAN |COLORBLINDNESS, TRITANOPIC
Slim Mappings:Eye disease|Nervous system disease|Signs and symptoms
Reference: MedGen: 190900
MeSH: 190900
OMIM: 190900;
MSeqDR LSDB:  
Genes: OPN1SW;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0008275Abnormal light-adapted electroretinogram
3 HP:0000552Tritanomaly
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001708.2(OPN1SW):c.790C>T (p.Pro264Ser)611OPN1SWPathogenicrs104894033RCV000000081; NHuman Phenotype Ontology:HP:0000552,MONDO:MONDO:0008610,MedGen:C0155017,OMIM:190900, Orphanet:886297128413840128413840GA7:g.128413840G>AClinGen:CA113831,UniProtKB:P03999#VAR_004840,OMIM:613522.0003C0155017 190900 Tritanopia;
NM_001708.2(OPN1SW):c.640T>C (p.Ser214Pro)611OPN1SWPathogenicrs104894032RCV000000080; NHuman Phenotype Ontology:HP:0000552,MONDO:MONDO:0008610,MedGen:C0155017,OMIM:190900, Orphanet:886297128414599128414599AG7:g.128414599A>GUniProtKB:P03999#VAR_004839,OMIM:613522.0002,ClinGen:CA113830C0155017 190900 Tritanopia;
NM_001385125.1(OPN1SW):c.357A>C (p.Gly119=)611OPN1SWBenign-1RCV001519920|RCV001788568; NMedGen:CN517202|Human Phenotype Ontology:HP:0000552,MONDO:MONDO:0008610,MedGen:C0155017,OMIM:190900, Orphanet:886297128415195128415195TG128415195-
NM_001708.2(OPN1SW):c.235G>A (p.Gly79Arg)611OPN1SWUncertain significancers104894031RCV000000079|RCV001044282; NHuman Phenotype Ontology:HP:0000552,MONDO:MONDO:0008610,MedGen:C0155017,OMIM:190900, Orphanet:88629|MedGen:CN5172027128415610128415610CT7:g.128415610C>TClinGen:CA113829,UniProtKB:P03999#VAR_004838,OMIM:613522.0001C0155017 190900 Tritanopia;
MSeqDR Portal