Variant NM_000492.4:c.3324del
Name | NM_000492.4:c.3324del |
Protein name | NP_000483.3:p.(Ile1109Serfs*12) |
Genomic name (hg19) | chr7:g.117251819del UCSC |
#Exon/intron | exon 20 |
Class | disease-causing |
Subclass | CF-causing |
WT sequence | AAATGAGAATAGAAATGATTTTTGT C ATCTTCTTCATTGCTGTTACCTTCA |
Mutant sequence | AAATGAGAATAGAAATGATTTTTGT - ATCTTCTTCATTGCTGTTACCTTCA |
Not found | dbSNP no rs | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 1 |
---|---|
CF | 1 |
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
CF | 4418 | heterozygote | CFTR-RD-causing - Trans CFTR-RD-causing - Trans VUS3- Undef |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
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