Variant NM_000492.4:c.2045dup
Name | NM_000492.4:c.2045dup |
Protein name | NP_000483.3:p.(Gln685Thrfs*4) |
Genomic name (hg19) | chr7:g.117232266dup UCSC |
#Exon/intron | exon 14 |
Legacy Name | 2176insC |
Class | disease-causing |
WT sequence | ATGCTCCTGTCTCCTGGACAGAAAC - AAAAAAACAATCTTTTAAACAGACT |
Mutant sequence | ATGCTCCTGTCTCCTGGACAGAAAC C AAAAAAACAATCTTTTAAACAGACT |
dbSNP no rs | 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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