Variant NM_000492.4:c.2989-449_3468+644del
Name | NM_000492.4:c.2989-449_3468+644del |
Protein name | NP_000483.3:p.(Leu997_Leu1156del) |
Genomic name (hg19) | chr7:g.117250124_117255411del UCSC |
#Exon/intron | intron 18 |
Class | disease-causing |
Subclass | CF-causing |
WT sequence | ACTATGCAGCCATAAAAAATGATGA GTTCAT [5276bp] AAAAGA AGCTTTTAAGTTTAATAAAGTTCAA |
Mutant sequence | ACTATGCAGCCATAAAAAATGATGA ---------------------- AGCTTTTAAGTTTAATAAAGTTCAA |
Not found | Not found | dbSNP no rs | Not found | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 4 |
---|---|
CF | 4 |
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
CF | 5676 | heterozygote | CF-causing - Trans |
CF | 2066 | heterozygote | CF-causing- Undef |
CF | 2644 | heterozygote | CF-causing - Trans |
CF | 2375 | homozygote | c.2989-449_3468+644del - p.(Leu997_Leu1156del) - Trans |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
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