Variant NM_000492.4:c.-276_53+2553del
Name | NM_000492.4:c.-276_53+2553del |
Protein name | NP_000483.3:p.? |
Genomic name (hg19) | chr7:g.117119873_117122754del UCSC |
#Exon/intron | UTR 5 |
Class | disease-causing |
Subclass | CF-causing |
WT sequence | AGGAGGAAGGAGCGGGAGGGGTGCT GGCGGG [2870bp] TGTGCT ATTTAATTTGGGAAAATTTTTTAAA |
Mutant sequence | AGGAGGAAGGAGCGGGAGGGGTGCT ---------------------- ATTTAATTTGGGAAAATTTTTTAAA |
Not found | Not found | dbSNP no rs | Not found | 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 |
---|---|---|---|
CF | 814 | heterozygote | CF-causing - Trans |
Other | 877 | heterozygote | CFTR-RD-causing - Trans |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
|