Individual ID | 20851825.01 |
---|---|
Pubmed ID | 20851825 |
Whose mosaic mutation | Mother |
Phenotypic Category | 1 |
Age | 7.0 |
Number of affected children | 2 ( male: 1; female: 1; ) |
Disease | Catecholaminergic polymorphic ventricular tachycardia1(view all the variants in this disease) |
OMIM ID | 604772 |
Found 3 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
277 | 6262 | RYR2 | 1 | 237804283 | 237804283 | Catecholaminergic polymorphic ventricular tachycardia1 | High Resolution Melting |
278 | 6262 | RYR2 | 1 | 237804283 | 237804283 | Catecholaminergic polymorphic ventricular tachycardia1 | High Resolution Melting |
279 | 6262 | RYR2 | 1 | 237804283 | 237804283 | Catecholaminergic polymorphic ventricular tachycardia1 | High Resolution Melting |