Heterozygous Missense Mutation in the Coiled-Coil Domain of STAT5B
Demographics (3)
- Age - Subject age (phv00386922.v1.p1)
- Sex - Gender of participant (phv00386923.v1.p1)
- SEX - Sex (phv00386917.v1.p1)
Race and Ethnicity (1)
- Race - Race of participant (phv00386924.v1.p1)
Other (23)
- AFFECTION_STATUS - Case (Mutation in STAT5B protein) - control status of the subject (phv00386912.v1.p1)
- ANALYTE_TYPE - Analyte Type (phv00386934.v1.p1)
- Autoimmunity - Diagnosis criteria - autoimmunity (phv00386931.v1.p1)
- BODY_SITE - Body site where sample was collected (phv00386933.v1.p1)
- CONSENT - Consent group as determined by DAC (phv00386911.v1.p1)
- FAMILY_ID - Family ID (phv00386913.v1.p1)
- FATHER - Father's Subject ID (phv00386916.v1.p1)
- GENOTYPING_CENTER - Name of the center which conducted genotyping (phv00386936.v1.p1)
- Granulomas - Diagnosis criteria - granulomas (phv00386929.v1.p1)
- Hyper-IgM - Diagnosis criteria - hyper-IgM (phv00386930.v1.p1)
- IS_TUMOR - Tumor status (phv00386935.v1.p1)
- Leukocytosis - Diagnosis criteria - leukocytosis (phv00386926.v1.p1)
- Lymphadenopathy - Diagnosis criteria - lymphadenopathy (phv00386927.v1.p1)
- MOTHER - Mother's Subject ID (phv00386915.v1.p1)
- SAMPLE_ID - De-identified Sample ID (phv00386932.v1.p1)
- SAMPLE_ID - Sample ID (phv00386919.v1.p1)
- SAMPLE_USE - Sample Use (phv00386920.v1.p1)
- Splenomegaly - Diagnosis criteria - splenomegaly (phv00386928.v1.p1)
- STAT5B Q206R - Diagnosis criteria - deleterious variant (phv00386925.v1.p1)
- SUBJECT_ID - De-identified Subject ID (phv00386921.v1.p1)
- SUBJECT_ID - Unique Subject ID (phv00386914.v1.p1)
- SUBJECT_ID - Subject ID (phv00386910.v1.p1)
- SUBJECT_ID - Subject ID (phv00386918.v1.p1)