Variant NM_000492.4:c.2909-71G>C
Name | NM_000492.4:c.2909-71G>C |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117246657G>C UCSC gnomAD |
#Exon/intron | intron 17 |
Legacy Name | 3041-71G/C |
Class | non disease-causing |
WT sequence | ATGCGTCTACTGTGATCCAAACTTA G TATTGAATATATTGATATATCTTTA |
Mutant sequence | ATGCGTCTACTGTGATCCAAACTTA C TATTGAATATATTGATATATCTTTA |
Not found | dbSNP rs34830471 | Not found |
1 individuals carrying this variant are reported in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 21 |
---|---|
Asymptomatic compound heterozygote | 2 |
CF | 5 |
CFTR-RD | 14
|
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
CF | 177 | heterozygote | CF-causing- Undef CF-causing- Undef |
CF | 4480 | heterozygote | CF-causing- Undef VUS2- Undef |
CF | 4744 | heterozygote | CF-causing- Undef VUS3- Undef |
CF | 3200 | heterozygote | CF-causing- Undef CF-causing- Undef |
CF | 1178 | heterozygote | CF-causing- Undef CF-causing- Undef |
CBAVD | 5946 | heterozygote | CF-causing- Undef VUS3- Undef |
CBAVD | 448 | heterozygote | CF-causing- Undef varying clinical consequence- Undef |
CBAVD | 720 | heterozygote | CFTR-RD-causing- Undef |
CBAVD | 868 | heterozygote | CF-causing- Undef VUS4- Undef |
CBAVD | 1276 | heterozygote | VUS3- Undef CFTR-RD-causing- Undef |
CBAVD | 2504 | heterozygote | varying clinical consequence- Undef CF-causing- Undef VUS1- Undef |
Other | 5175 | heterozygote | CF-causing- Undef VUS3- Undef |
Other | 5775 | heterozygote | CF-causing- Undef VUS3- Undef VUS3- Undef |
Other | 4539 | heterozygote | VUS2- Undef VUS3- Undef VUS1- Undef |
Other | 5187 | heterozygote | CF-causing- Undef CFTR-RD-causing- Undef |
Other | 4587 | heterozygote | CFTR-RD-causing- Undef |
Bronchiectasis | 4253 | heterozygote | VUS4- Undef |
Bronchiectasis | 2501 | heterozygote | VUS2- Undef VUS3- Undef |
Pancreatitis | 5010 | heterozygote | CFTR-RD-causing- Undef CFTR-RD-causing- Undef |
Asymptomatic compound heterozygote | 4303 | heterozygote | VUS2- Undef CFTR-RD-causing- Undef |
Asymptomatic compound heterozygote | 4526 | heterozygote | VUS1- Undef VUS1- Undef |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
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