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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Long QT Syndrome (D008133)
..Starting node ..Long Qt Syndrome 3 (C565840)
Child Nodes:
Sister Nodes:
..Andersen Syndrome (D050030)
..Jervell-Lange Nielsen Syndrome (D029593) 1
..Long Qt Syndrome 10 (C567514)
..Long Qt Syndrome 11 (C567513)
..Long Qt Syndrome 12 (C567842)
..LONG QT SYNDROME 13 (OMIM:613485)
..Long Qt Syndrome 2 (C563614)
..Long Qt Syndrome 2/3 (C565841)
..Long Qt Syndrome 2/5 (C566765)
..Long Qt Syndrome 3 (C565840)
..Long Qt Syndrome 3/6 (C566334)
..Long Qt Syndrome 4 (C563428)
..Long Qt Syndrome 5 (C566766)
..Long Qt Syndrome 6 (C566333)
..Long Qt Syndrome 9 (C567515)
..Long QT syndrome type 3 (C537034)
..Romano-Ward Syndrome (D029597) 1
..Timothy syndrome (C536962)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6531

Name:

Long Qt Syndrome 3

Definition:

Alternative IDs:

OMIM:603830

ParentIDs:

MESH:D008133

TreeNumbers:

C14.280.067.565/C565840 |C16.131.240.400.715/C565840 |C23.550.073.547/C565840

Synonyms:

LONG QT SYNDROME 2/3, DIGENIC, INCLUDED;LQT2/3, DIGENIC, INCLUDED |LONG QT SYNDROME 3/6, DIGENIC, INCLUDED;LQT3/6, DIGENIC, INCLUDED |LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED |LQT3

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Pathology (process)

Reference:

MedGen: C565840
MeSH: C565840
OMIM: 603830;

Genes: SCN5A;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001425	Heterogeneous
3	HP:0001657	Prolonged QT interval
4	HP:0001645	Sudden cardiac death
5	HP:0001279	Syncope
6	HP:0001664	Torsade de pointes
7	HP:0001663	Ventricular fibrillation

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_198056.2(SCN5A):c.6010T>C (p.Phe2004Leu)	6331	SCN5A	Benign;Likely benign;Uncertain significance	41311117	RCV000204558; RCV000058821; RCV000041636; RCV000171818; RCV000202785;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:C1142166, Orphanet:ORPHA130,SNOMED CT:418818005; MedGen:C1859062,OMIM:603830; MedGen:CN029323,OMIM:601144; MedGen:CN169374; MedGen:CN221809	3	38591853	38591853	NM_198056.2:c.6010T>C	NP_932173.1:p.Phe2004Leu	NC_000003.11:g.38591853A>C,NC_000003.11:g.38591853A>G	-	C1142166 Brugada syndrome; CN029323 601144 Brugada syndrome 1; C0023976 Long QT syndrome; C1859062 603830 Long qt syndrome 3; CN221809 not provided; CN169374 not specified
NM_000335.4(SCN5A):c.5474G>A (p.Arg1825His)	6331	SCN5A	Pathogenic;Uncertain significance	137854610	RCV000009987; RCV000148848; RCV000183123; RCV000154827; RCV000058786;	N	EFO:EFO_0005303,MedGen:C0038644,OMIM:272120,SNOMED CT:51178009; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:C1859062,OMIM:603830; MedGen:CN169374; MedGen:CN221809	3	38592386	38592386	NM_000335.4:c.5474G>A	NP_000326.2:p.Arg1825His	NC_000003.11:g.38592386C>T	OMIM Allelic Variant:600163.0020	C1141890 Congenital long QT syndrome; C1859062 603830 Long qt syndrome 3; CN221809 not provided; CN169374 not specified; C0038644 272120 SUDDEN INFANT DEATH SYNDROME
NM_000335.4(SCN5A):c.5382_5384dupTGA (p.Tyr1794_Glu1795insAsp)	6331	SCN5A	Pathogenic	397514449	RCV000009979; RCV000009980;	N	MedGen:C1859062,OMIM:603830; MedGen:CN029323,OMIM:601144	3	38592476	38592478	NM_000335.4:c.5382_5384dupTGA	NP_000326.2:p.Tyr1794_Glu1795insAsp	NC_000003.11:g.38592476_38592478dupTCA	OMIM Allelic Variant:600163.0013	CN029323 601144 Brugada syndrome 1; C1859062 603830 Long qt syndrome 3
NM_000335.4(SCN5A):c.5381A>G (p.Tyr1794Cys)	6331	SCN5A	Pathogenic	137854614	RCV000009969; RCV000058778;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:C1859062,OMIM:603830	3	38592479	38592479	NM_000335.4:c.5381A>G	NP_000326.2:p.Tyr1794Cys	NC_000003.11:g.38592479T>C	OMIM Allelic Variant:600163.0029	C1141890 Congenital long QT syndrome; C1859062 603830 Long qt syndrome 3
NM_198056.2(SCN5A):c.5350G>A (p.Glu1784Lys)	6331	SCN5A	Pathogenic	137854601	RCV000009972; RCV000009973; RCV000009974; RCV000208193; RCV000183117; RCV000058773;	N	MedGen:C0428908; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:C1142166, Orphanet:ORPHA130,SNOMED CT:418818005; MedGen:C1859062,OMIM:603830; MedGen:CN029323,OMIM:601144; MedGen:CN221809	3	38592513	38592513	NM_198056.2:c.5350G>A	NP_932173.1:p.Glu1784Lys	NC_000003.11:g.38592513C>T	OMIM Allelic Variant:600163.0008	C1142166 Brugada syndrome; CN029323 601144 Brugada syndrome 1; C1141890 Congenital long QT syndrome; C1859062 603830 Long qt syndrome 3; CN221809 not provided; C0428908 Sinus node disease
NM_198056.2(SCN5A):c.4931G>A (p.Arg1644His)	6331	SCN5A	Pathogenic	28937316	RCV000009963; RCV000183090; RCV000058726;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:C1859062,OMIM:603830; MedGen:CN221809	3	38592932	38592932	NM_198056.2:c.4931G>A	NP_932173.1:p.Arg1644His	NC_000003.11:g.38592932C>T	OMIM Allelic Variant:600163.0002	C1141890 Congenital long QT syndrome; C1859062 603830 Long qt syndrome 3; CN221809 not provided
NM_000335.4(SCN5A):c.4865G>A (p.Arg1622Gln)	6331	SCN5A	Pathogenic	137854600	RCV000009971; RCV000009970; RCV000058716;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:C1859062,OMIM:603830; MedGen:CN068951	3	38592995	38592995	NM_000335.4:c.4865G>A	NP_000326.2:p.Arg1622Gln	NC_000003.11:g.38592995C>A,NC_000003.11:g.38592995C>T	OMIM Allelic Variant:600163.0007	C1141890 Congenital long QT syndrome; C1859062 603830 Long qt syndrome 3; CN068951 Long qt syndrome 3/6, digenic
NM_198056.2(SCN5A):c.4519_4527delCAGAAGCCC (p.Gln1507_Pro1509del)	6331	SCN5A	Pathogenic	397514251	RCV000009962; RCV000183165;	N	MedGen:C1859062,OMIM:603830; MedGen:CN221809	3	38597162	38597170	NM_198056.2:c.4519_4527delCAGAAGCCC	NP_932173.1:p.Gln1507_Pro1509del		OMIM Allelic Variant:600163.0001	C1859062 603830 Long qt syndrome 3; CN221809 not provided
NM_000335.4(SCN5A):c.3971A>G (p.Asn1324Ser)	6331	SCN5A	Pathogenic	28937317	RCV000009964; RCV000058618;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:C1859062,OMIM:603830	3	38601909	38601909	NM_000335.4:c.3971A>G	NP_000326.2:p.Asn1324Ser	NC_000003.11:g.38601909T>C	OMIM Allelic Variant:600163.0003	C1141890 Congenital long QT syndrome; C1859062 603830 Long qt syndrome 3
NM_198056.2(SCN5A):c.2989G>T (p.Ala997Ser)	6331	SCN5A	Pathogenic	137854609	RCV000009986; RCV000183020; RCV000058542;	N	MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:C1859062,OMIM:603830; MedGen:CN221809	3	38622661	38622661	NM_198056.2:c.2989G>T	NP_932173.1:p.Ala997Ser	NC_000003.11:g.38622661C>A,NC_000003.11:g.38622661C>T	OMIM Allelic Variant:600163.0019	C1141890 Congenital long QT syndrome; C1859062 603830 Long qt syndrome 3; CN221809 not provided
NM_000335.4(SCN5A):c.2821_2822delTCinsAA (p.Ser941Asn)	6331	SCN5A	Pathogenic	137854605	RCV000009982;	N	MedGen:C1859062,OMIM:603830	3	38622828	38622829	NM_000335.4:c.2821_2822delTCinsAA	NP_000326.2:p.Ser941Asn	NC_000003.11:g.38622828_38622829delGAinsTT	OMIM Allelic Variant:600163.0015	C1859062 603830 Long qt syndrome 3
NM_000335.4(SCN5A):c.2074C>A (p.Gln692Lys)	6331	SCN5A	Likely benign;Uncertain significance	45553235	RCV000148842; RCV000157484; RCV000058479; RCV000151790; RCV000202895;	N	MedGen:C0023976,SNOMED CT:9651007; MedGen:C1142166, Orphanet:ORPHA130,SNOMED CT:418818005; MedGen:C1859062,OMIM:603830; MedGen:CN029323,OMIM:601144; MedGen:CN169374; MedGen:CN221809	3	38639408	38639408	NM_000335.4:c.2074C>A	NP_000326.2:p.Gln692Lys	NC_000003.11:g.38639408G>T	-	C1142166 Brugada syndrome; CN029323 601144 Brugada syndrome 1; C0023976 Long QT syndrome; C1859062 603830 Long qt syndrome 3; CN221809 not provided; CN169374 not specified
NM_198056.2(SCN5A):c.1571C>A (p.Ser524Tyr)	6331	SCN5A	Benign;Likely benign;Uncertain significance	41313691	RCV000058430; RCV000041601; RCV000202694;	N	MedGen:C1859062,OMIM:603830; MedGen:CN029323,OMIM:601144; MedGen:CN169374; MedGen:CN221809	3	38645522	38645522	NM_198056.2:c.1571C>A	NP_932173.1:p.Ser524Tyr	NC_000003.11:g.38645522G>T	-	CN029323 601144 Brugada syndrome 1; C1859062 603830 Long qt syndrome 3; CN221809 not provided; CN169374 not specified
NM_198056.2(SCN5A):c.1567C>T (p.Arg523Cys)	6331	SCN5A	Likely pathogenic;Pathogenic	199473119	RCV000182977; RCV000058429; RCV000196670;	N	MedGen:C0340493,OMIM:603829,SNOMED CT:233915000; MedGen:C1141890, Orphanet:ORPHA768,SNOMED CT:442917000; MedGen:C1832680,OMIM:601154; MedGen:C1859062,OMIM:603830; MedGen:C1879286,OMIM:113900; MedGen:C3151464,OMIM:614022; MedGen:CN029323,OMIM:601144; MedGen:CN22	3	38645526	38645526	NM_198056.2:c.1567C>T	NP_932173.1:p.Arg523Cys	NC_000003.11:g.38645526G>A	-	C3151464 614022 Atrial fibrillation, familial, 10; CN029323 601144 Brugada syndrome 1; C1141890 Congenital long QT syndrome; C1832680 601154 Dilated cardiomyopathy 1E; C1859062 603830 Long qt syndrome 3; C1879286 113900 Progressive familial heart block
NM_001099404.1(SCN5A):c.1441C>T (p.Arg481Trp)	6331	SCN5A	Benign;Likely benign	144511230	RCV000058424; RCV000041599; RCV000203074;	N	MedGen:C1859062,OMIM:603830; MedGen:CN029323,OMIM:601144; MedGen:CN169374; MedGen:CN221809	3	38646297	38646297	NM_001099404.1:c.1441C>T	NP_001092874.1:p.Arg481Trp	NC_000003.11:g.38646297G>A	-	CN029323 601144 Brugada syndrome 1; C1859062 603830 Long qt syndrome 3; CN221809 not provided; CN169374 not specified