Variant NM_000492.4:c.680T>C
Name | NM_000492.4:c.680T>C |
Protein name | NP_000483.3:p.(Leu227Pro) |
Genomic name (hg19) | chr7:g.117175402T>C UCSC gnomAD |
#Exon/intron | exon 6 |
Legacy Name | L227P |
Class | VUS |
Subclass | VUS4 |
WT sequence | TTACAGGCGTCTGCCTTCTGTGGAC T TGGTTTCCTGATAGTCCTTGCCCTT |
Mutant sequence | TTACAGGCGTCTGCCTTCTGTGGAC C TGGTTTCCTGATAGTCCTTGCCCTT |
![]() Not found | ![]() Not found | dbSNP no rs |
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Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
No patient found in CFTR-NGS catalogue |
No patient found in CFTR-France |
CFTR variants are clustered into five groups: |
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