Individual ID | 25239704.01 |
---|---|
Pubmed ID | 25239704 |
Whose mosaic mutation | Female Patient |
Origin of mosaic mutation in patients | de novo |
Phenotypic Category | 3 |
Age | 38.0 ~ 38.0 |
Disease | Schnitzler syndrome(view all the variants in this disease) |
OMIM ID | 175100 |
Found 1 variant in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
612 | 114548 | NLRP3 | 1 | 247588314 | 247588314 | Schnitzler syndrome | MiSeq |