Disorder "Heart conduction disease"
Found 1 record
Disorder information
Disorder name:
Heart conduction disease
Disoder ID:
Synonyms:
heart rhythm disease
Definition:
A cardiovascular system disease that involves the heart's electrical conduction system.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered gene activity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| SCN5A | SCN5A:c.1673A>G(p.His558Arg) | Expressivity | Altered gene activity | Pedigree analysis | a common SCN5A polymorphism (H558R) in the Na(+) channel I-II interdomain cytoplasmic linker, present in 20% of the population, can mitigate the in vitro effects of a nearby mutation (T512I) on Na(+) channel function.more | more |
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