Variant NM_000492.4:c.4243-16A>G
Name | NM_000492.4:c.4243-16A>G |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117306946A>G UCSC gnomAD |
#Exon/intron | intron 26 |
Class | VUS |
WT sequence | CTGCCTTCTGTCCCAGATCTCACTA A CAGCCATTTCCCTAGGTCATAGAAG |
Mutant sequence | CTGCCTTCTGTCCCAGATCTCACTA G CAGCCATTTCCCTAGGTCATAGAAG |
Not found | Not found | dbSNP no rs | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 2 |
---|---|
CFTR-RD | 2
|
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
Pancreatitis | 5054 | heterozygote | CFTR-RD-causing- Undef |
CBAVD | 3288 | heterozygote | VUS1 - Cis CF-causing - Trans |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
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