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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

Disease Browser
Parent Node: Long QT Syndrome (D008133)
..Starting node ..Long Qt Syndrome 10 (C567514)
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:

6523

Name:

Long Qt Syndrome 10

Definition:

Alternative IDs:

OMIM:611819

ParentIDs:

MESH:D008133

TreeNumbers:

C14.280.067.565/C567514 |C16.131.240.400.715/C567514 |C23.550.073.547/C567514

Synonyms:

ATFB17, INCLUDED |ATRIAL FIBRILLATION, FAMILIAL, 17, INCLUDED |LQT10

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Pathology (process)

Reference:

MedGen: C567514
MeSH: C567514
OMIM: 611819;

Genes: SCN4B;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0005110	Atrial fibrillation	HP:0040283
3	HP:0001678	Atrioventricular block
4	HP:0001657	Prolonged QT interval
5	HP:0001645	Sudden cardiac death
6	HP:0012266	T-wave alternans

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	Disease_hgmd
NM_174934.3(SCN4B):c.535C>T (p.Leu179Phe)	6330	SCN4B	Pathogenic	121434386	RCV000002563;	N	MedGen:C2678484,OMIM:611819	11	118011980	118011980	NM_174934.3:c.535C>T	NP_777594.1:p.Leu179Phe	NC_000011.9:g.118011980G>A	OMIM Allelic Variant:608256.0001	C2678484 611819 Long QT syndrome 10