Variant NM_000492.4:c.1679+694_2490+281dup
Name | NM_000492.4:c.1679+694_2490+281dup |
Protein name | NP_000483.3:p.(?) |
Genomic name (hg19) | chr7:g.117228581_117232992dup UCSC |
#Exon/intron | intron 12 |
Class | VUS |
WT sequence | CTATAAGTTAGAAAG----------------------------------------CATTTGCTTTATTAC |
Mutant sequence | CTATAAGTTAGAAAGACTTTGTTGCCAAAG ........ CTATAAGTTAGAAAGCATTTGCTTTATTAC |
Not found | Not found | dbSNP no rs | Not found | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 1 |
---|---|
CFTR-RD | 1
|
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
CBAVD | 5774 | heterozygote |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
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