| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
51 YR |
| Sex |
Male |
| Age at Diagnosis(If not a control) |
51 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
Other |
| Country |
CANADA |
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| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
DPYD C. 704G>A
GENOTYPING WAS ASSESSED USING TAQMAN ALLELIC DISCRIMINATION ASSAY THE FOLLOWING MUTATION WAS FOUND: DPYD C. 704G>A IN ADDITION TO DPYD C.85T>C(*9A); DPYD C.219G>A(*6). |
| Zygosity: |
Heterozygous |
| Other variants: |
DPYD C.85T>C(*9A); DPYD C.219G>A(*6) |
| Age of Symptom Onset and Age at Diagnosis |
| Age at Diagnosis: |
51 YR |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
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| Neurological Symptoms |
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| Optical and Audiological Symptoms |
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| Developmental Milestones |
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| Gastrointestinal Symptoms |
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| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
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| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
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| Medications |
| Family History |
| Remarks |
See "Phenotypic Data" tab
Presence of this rare loss of function mutation have experienced severe toxicity during fluoropyrimidine chemotherapy. |