PhenoModifier-Disease Detail

Disorder "long QT syndrome 1"

Found 3 records

Disorder information

Disorder name:

long QT syndrome 1

Disoder ID:

DOID_0110644

OMIM entry:

OMIM:192500

Synonyms:

LQT1, ventricular fibrillation with prolonged QT interval

Definition:

A long qt syndrome that has_material_basis_in dominant inheritance of mutation in the kcnq1 gene on chromosome 11p15.5-p15.4.

Modifier statisitcs

Record:

3

Gene:

1

Variant:

3

Reference:

1

Effect type:

Expressivity(3)

Modifier effect:

Altered severity(3)

Modifier gene	Variant	Effect type	Modifier effect	Evidence	Effect	PubMed ID
KCNQ1	KCNQ1:c.*932A>G	Expressivity	Altered severity	P=0.493	These 3'UTR SNPs potently modify disease severity in LQT1.more	22199116 more
	KCNQ1:rs2519184	Expressivity	Altered severity	P=0.118	These 3'UTR SNPs potently modify disease severity in LQT1.more	22199116 more
	KCNQ1:c.*875A>G	Expressivity	Altered severity	P=0.493	These 3'UTR SNPs potently modify disease severity in LQT1.more	22199116 more

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