Variant NM_000492.4:c.4442A>G
Name | NM_000492.4:c.4442A>G |
Protein name | NP_000483.3:p.(*1481Trpext*4) |
Genomic name (hg19) | chr7:g.117307161A>G UCSC gnomAD |
#Exon/intron | UTR 3 |
Class | VUS |
Subclass | VUS3 |
WT sequence | GAAGAGGTGCAAGATACAAGGCTTT A GAGAGCAGCATAAATGTTGACATGG |
Mutant sequence | GAAGAGGTGCAAGATACAAGGCTTT G GAGAGCAGCATAAATGTTGACATGG |
Not found | Not found | dbSNP no rs | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 2 |
---|---|
CF | 1 |
CFTR-RD | 1
|
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
Bronchiectasis | 5900 | heterozygote | VUS3- Undef |
CF | 2673 | heterozygote | CF-causing- Undef 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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