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:5080
Name:Glaucoma 1, Open Angle, G
Definition:
Alternative IDs:OMIM:609887
ParentIDs:MESH:D005902
TreeNumbers:C11.525.381.407/C563692
Synonyms:GLC1G
Slim Mappings:Eye disease
Reference: MedGen: C563692
MeSH: C563692
OMIM: 609887;
MSeqDR LSDB:  
Genes: WDR36;
Phenotypes
1 HP:0012108Open angle glaucoma
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_139281.3(WDR36):c.896A>G (p.Asn299Ser)134430WDR36Uncertain significancers118204022RCV000001648|RCV001753397; NMONDO:MONDO:0012357,MedGen:C1835933,OMIM:609887|MedGen:CN5172025110440041110440041AG5:g.110440041A>GClinGen:CA115072,UniProtKB:Q8NI36#VAR_025966,OMIM:609669.0002C1835933 609887 Glaucoma 1, open angle, G;
NM_139281.3(WDR36):c.1177G>A (p.Ala393Thr)134430WDR36Benign/Likely benignrs35703638RCV000001649|RCV001258283|RCV002054408; NMONDO:MONDO:0012357,MedGen:C1835933,OMIM:609887|MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472, Orphanet:231178, Orphanet:886|MedGen:CN5172025110441839110441839GA5:g.110441839G>AClinGen:CA115073,UniProtKB:Q8NI36#VAR_025967,OMIM:609669.0003C1835933 609887 Glaucoma 1, open angle, G;
NM_139281.3(WDR36):c.1418G>A (p.Arg473Gln)134430WDR36Pathogenicrs116529882RCV000001650; NMONDO:MONDO:0012357,MedGen:C1835933,OMIM:6098875110445979110445979GA5:g.110445979G>AClinGen:CA115074,UniProtKB:Q8NI36#VAR_025968,OMIM:609669.0004C1835933 609887 Glaucoma 1, open angle, G;
NM_139281.3(WDR36):c.1805A>G (p.Asp602Gly)134430WDR36Likely benignrs34595252RCV000001647|RCV000246285; NMONDO:MONDO:0012357,MedGen:C1835933,OMIM:609887|MedGen:CN1693745110454719110454719AG5:g.110454719A>GClinGen:CA115071,UniProtKB:Q8NI36#VAR_025969,OMIM:609669.0001C1835933 609887 Glaucoma 1, open angle, G;
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