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:8123
Name:Mitral Valve Prolapse, Myxomatous 2
Definition:
Alternative IDs:OMIM:607829
ParentIDs:MESH:D008945
TreeNumbers:C14.280.484.400.500/C564326
Synonyms:MITRAL VALVE PROLAPSE 2 |MITRAL VALVE PROLAPSE, MYXOMATOUS 2 |MMVP2 |MVP2 |Myxomatous Mitral Valve Prolapse 2
Slim Mappings:Cardiovascular disease
Reference: MedGen: C564326
MeSH: C564326
OMIM: 607829;
MSeqDR LSDB:  
Genes: MMVP2;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003831Age-dependent penetrance
3 HP:0001653Mitral regurgitation
4 HP:0001634Mitral valve prolapse
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_003737.4(DCHS1):c.7538G>A (p.Arg2513His)8642DCHS1Likely benignrs201457110RCV000201949|RCV000896845; NMONDO:MONDO:0011915,MedGen:C1843003,OMIM:607829|MedGen:CN5172021166453696645369CTNC_000011.9:g.6645369C>TClinGen:CA210366,UniProtKB:Q96JQ0#VAR_075050,OMIM:603057.0004C1843003 607829 Mitral valve prolapse 2;
NM_003737.4(DCHS1):c.6988C>T (p.Arg2330Cys)8642DCHS1Pathogenic/Likely pathogenicrs768737101RCV000201937|RCV001356564; NMONDO:MONDO:0011915,MedGen:C1843003,OMIM:607829|MedGen:CN5172021166465876646587GANC_000011.9:g.6646587G>AClinGen:CA210361,UniProtKB:Q96JQ0#VAR_075049,OMIM:603057.0005C1843003 607829 Mitral valve prolapse 2;
NM_003737.4(DCHS1):c.6415C>T (p.Arg2139Trp)8642DCHS1Uncertain significancers145429962RCV001336074|RCV001773671; NMONDO:MONDO:0011915,MedGen:C1843003,OMIM:607829|MedGen:CN5172021166475616647561GA6647561-
NM_003737.4(DCHS1):c.6209G>T (p.Arg2070Leu)8642DCHS1Uncertain significancers773052564RCV001336073; NMONDO:MONDO:0011915,MedGen:C1843003,OMIM:6078291166480616648061CA6648061-
NM_003737.4(DCHS1):c.5809G>T (p.Ala1937Ser)8642DCHS1Uncertain significancers766811278RCV001336072; NMONDO:MONDO:0011915,MedGen:C1843003,OMIM:6078291166484616648461CA6648461-
NM_003737.4(DCHS1):c.5679C>A (p.Tyr1893Ter)8642DCHS1Pathogenicrs959285916RCV001329124; NMONDO:MONDO:0011915,MedGen:C1843003,OMIM:6078291166485916648591GT6648591-
NM_003737.4(DCHS1):c.4798G>T (p.Ala1600Ser)8642DCHS1Uncertain significancers1019051197RCV001329123; NMONDO:MONDO:0011915,MedGen:C1843003,OMIM:6078291166511406651140CA6651140-
NM_003737.4(DCHS1):c.4552C>T (p.Arg1518Trp)8642DCHS1Uncertain significancers756570525RCV001262924|RCV001664790; NMONDO:MONDO:0011915,MedGen:C1843003,OMIM:607829|MedGen:CN5172021166514736651473GA11:g.6651473G>A-
NM_003737.4(DCHS1):c.3785A>T (p.Glu1262Val)8642DCHS1Uncertain significancers371379877RCV001329746; NMONDO:MONDO:0011915,MedGen:C1843003,OMIM:6078291166524296652429TA6652429-
NM_003737.4(DCHS1):c.3416G>C (p.Arg1139Pro)8642DCHS1Uncertain significancers777617608RCV001336071; NMONDO:MONDO:0011915,MedGen:C1843003,OMIM:6078291166533276653327CG6653327-
NM_003737.4(DCHS1):c.1442C>A (p.Pro481His)8642DCHS1Uncertain significancers1209666427RCV001329121; NMONDO:MONDO:0011915,MedGen:C1843003,OMIM:6078291166614036661403GT6661403-
NM_003737.4(DCHS1):c.994G>A (p.Val332Met)8642DCHS1Uncertain significancers1413559157RCV001336076; NMONDO:MONDO:0011915,MedGen:C1843003,OMIM:6078291166618516661851CT6661851-
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