Variant NM_000492.4:c.54-?_164+?del
Name | NM_000492.4:c.54-?_164+?del |
Protein name | NP_000483.3:p.(Ser18_Glu54del) |
#Exon/intron | intron 1 |
Legacy Name | CFTRdele2 |
Class | disease-causing |
Not found | dbSNP no rs | Not found | Not found |
No patient found in CFTR-NGS catalogue |
No patient found in CFTR-France |
CFTR variants are clustered into five groups: |
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