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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/612955
http://purl.bioontology.org/ontology/OMIM/612955
|
|---|---|
| Preferred Name | LONG QT SYNDROME 12 |
| Synonyms |
LQT12
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | LQT12
|
|---|---|
| prefLabel | LONG QT SYNDROME 12
|
| Gene Symbol |
SNTA1
LQT12
TACIP1
SNT1
|
| Scope Statement | Syncopal episodes [MISCELLANEOUS]
Risk of sudden death due to cardiac arrhythmia [MISCELLANEOUS]
Caused by mutation in the alpha-1 syntrophin gene (SNTA1, 601017.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 20q11.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 612955
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2751830
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |