Variant NM_000492.4:c.100_117del
Name | NM_000492.4:c.100_117del |
Protein name | NP_000483.3:p.(Leu34_Gln39del) |
Genomic name (hg19) | chr7:g.117144353_117144370del UCSC |
#Exon/intron | exon 2 |
Legacy Name | 232del18 |
Class | disease-causing |
Subclass | CF-causing |
WT sequence | AAAGGATACAGACAGCGCCTGGAA TTGTCAGACATATACCAA ATCCCTTCTGTTGATTCTGCTGACA |
Mutant sequence | GAAAGGATACAGACAGCGCCTGGAA ------------------ ATCCCTTCTGTTGATTCTGCTGACA |
Not found | dbSNP rs397508141 | Not found |
No patient found in CFTR-NGS catalogue |
No patient found in CFTR-France |
CFTR variants are clustered into five groups: |
|