Variant NM_000492.4:c.2989-93A[12]
Name | NM_000492.4:c.2989-93A[12] |
#Exon/intron | intron 18 |
Legacy Name | 3121-92A12/13 |
Class | non disease-causing |
Not found | dbSNP no rs | Not found | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 2 |
---|---|
CF | 1 |
CFTR-RD | 1
|
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
CF | 195 | heterozygote | CF-causing- Undef VUS1- Undef CF-causing- Undef |
CBAVD | 408 | heterozygote | CFTR-RD-causing- Undef CF-causing- Undef |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
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