Variant NM_000492.4:c.1210-34TG[13]
Name | NM_000492.4:c.1210-34TG[13] |
#Exon/intron | intron 9 |
Legacy Name | 1342-11TTT>G |
Class | non disease-causing |
Not found | dbSNP no rs | Not found | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 3 |
---|---|
CFTR-RD | 3
|
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
CBAVD | 530 | heterozygote | varying clinical consequence- Undef CF-causing- Undef |
CBAVD | 1177 | heterozygote | varying clinical consequence- Undef |
Other | 1184 | heterozygote | varying clinical consequence- Undef CFTR-RD-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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