Variant NM_000492.4:c.2620-15C>G
Name | NM_000492.4:c.2620-15C>G |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117242865C>G UCSC gnomAD |
#Exon/intron | intron 15 |
Legacy Name | 2752-15C/G |
Class | VUS |
Subclass | VUS1 |
WT sequence | ATGTTAGAAAAAAAATCAACTGTGT C TTGTTCCATTCCAGGTGGCTGCTTC |
Mutant sequence | ATGTTAGAAAAAAAATCAACTGTGT G TTGTTCCATTCCAGGTGGCTGCTTC |
Not found | dbSNP rs139379077 | Not found |
2 individuals carrying this variant are reported in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 3 |
---|---|
CFTR-RD | 2
|
Pending | 1 |
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
Bronchiectasis | 4773 | heterozygote | CFTR-RD-causing- Undef CF-causing- Undef VUS3- Undef |
Pending | 1075 | heterozygote | CF-causing - Trans |
CBAVD | 1296 | heterozygote | CFTR-RD-causing- Undef CF-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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