Variant NM_000492.4:c.2620-17G>T
Name | NM_000492.4:c.2620-17G>T |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117242863G>T UCSC gnomAD |
#Exon/intron | intron 15 |
Class | VUS |
Subclass | VUS1 |
WT sequence | AGATGTTAGAAAAAAAATCAACTGT G TCTTGTTCCATTCCAGGTGGCTGCT |
Mutant sequence | AGATGTTAGAAAAAAAATCAACTGT T TCTTGTTCCATTCCAGGTGGCTGCT |
Not found | dbSNP no rs | 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 | 565 | heterozygote | CFTR-RD-causing- Undef VUS4- Undef CFTR-RD-causing- Undef CFTR-RD-causing- Undef |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
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