Variant NM_000492.4:c.1585-9449C>A
Name | NM_000492.4:c.1585-9449C>A |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117218344C>A UCSC gnomAD |
#Exon/intron | intron 11 |
Class | VUS |
Subclass | VUS3 |
WT sequence | AACATGAAAACTATGAGGACGAAGA C CTTTATGAAGATTCACCTCCACTTA |
Mutant sequence | AACATGAAAACTATGAGGACGAAGA A CTTTATGAAGATTCACCTCCACTTA |
Not found | Not found | dbSNP no rs | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 4 |
---|---|
Asymptomatic compound heterozygote | 2 |
CFTR-RD | 2
|
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
Other | 4671 | heterozygote | CFTR-RD-causing- Undef CFTR-RD-causing- Undef |
Asymptomatic compound heterozygote | 5144 | heterozygote | VUS1- Undef |
Asymptomatic compound heterozygote | 5851 | heterozygote | VUS1- Undef |
Pancreatitis | 5973 | heterozygote | 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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