Variant NM_000492.4:c.1392+52T[10]
Name | NM_000492.4:c.1392+52T[10] |
#Exon/intron | intron 10 |
Class | non disease-causing |
Not found | Not found | dbSNP no rs | Not found | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 1 |
---|---|
CFTR-RD | 1
|
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
CBAVD | 422 | heterozygote | CF-causing- Undef varying clinical consequence- Undef |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
|