Variant NM_000492.4:c.2192C>T
Name | NM_000492.4:c.2192C>T |
Protein name | NP_000483.3:p.(Pro731Leu) |
Genomic name (hg19) | chr7:g.117232413C>T UCSC gnomAD |
#Exon/intron | exon 14 |
Legacy Name | P731L |
Class | VUS |
Subclass | VUS3 |
WT sequence | GGCATCGAAGAGGATTCTGATGAGC C TTTAGAGAGAAGGCTGTCCTTAGTA |
Mutant sequence | GGCATCGAAGAGGATTCTGATGAGC T TTTAGAGAGAAGGCTGTCCTTAGTA |
Not found | Not found | dbSNP rs748634753 |
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: |
|