Variant NM_000492.4:c.3139+18C>T
Name | NM_000492.4:c.3139+18C>T |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117250741C>T UCSC gnomAD |
#Exon/intron | intron 19 |
Legacy Name | 3271+18C/T |
Class | non disease-causing |
WT sequence | ATCTGAAGGTATGACAGTGAATGTG C GATACTCATCTTGTAAAAAAGCTAT |
Mutant sequence | ATCTGAAGGTATGACAGTGAATGTG T GATACTCATCTTGTAAAAAAGCTAT |
Not found | dbSNP rs147945812 | Not found |
1 individuals carrying this variant are reported in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 3 |
---|---|
CF | 2 |
CFTR-RD | 1
|
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
CF | 168 | heterozygote | CF-causing- Undef |
CF | 998 | heterozygote | CF-causing - Cis CF-causing - Trans |
Other | 5224 | heterozygote | VUS3- Undef VUS3- Undef |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
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