Variant NM_000492.4:c.2044dup
Name | NM_000492.4:c.2044dup |
Protein name | NP_000483.3:p.(Thr682Asnfs*7) |
Genomic name (hg19) | chr7:g.117232265dup UCSC |
#Exon/intron | exon 14 |
Class | disease-causing |
WT sequence | GATGCTCCTGTCTCCTGGACAGAAA - CAAAAAAACAATCTTTTAAACAGAC |
Mutant sequence | GATGCTCCTGTCTCCTGGACAGAAA A CAAAAAAACAATCTTTTAAACAGAC |
Not found | 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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