Variant NM_000492.4:c.1A>G
Name | NM_000492.4:c.1A>G |
Protein name | NP_000483.3:p.? |
Genomic name (hg19) | chr7:g.117120149A>G UCSC |
#Exon/intron | exon 1 |
Legacy Name | M1V |
Class | disease-causing |
Subclass | CF-causing |
WT sequence | CAGGGACCCCAGCGCCCGAGAGACC A TGCAGAGGTCGCCTCTGGAAAAGGC |
Mutant sequence | CAGGGACCCCAGCGCCCGAGAGACC G TGCAGAGGTCGCCTCTGGAAAAGGC |
dbSNP rs397508328 |
Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 9 |
---|---|
CF | 6 |
CFTR-RD | 3
|
Color code: non disease-causing < likely benign < VUS < likely pathogenic < disease-causing |
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
CF | 97 | heterozygote | CF-causing - Trans |
CF | 119 | heterozygote | CF-causing - Trans |
CF | 190 | heterozygote | CF-causing- Undef |
CF | 602 | heterozygote | CF-causing - Trans |
CF | 2385 | heterozygote | CF-causing- Undef |
CF | 4596 | heterozygote | CF-causing - Trans |
CBAVD | 722 | heterozygote | CFTR-RD-causing - Trans |
CBAVD | 990 | heterozygote | varying clinical consequence- Undef |
Other | 789 | heterozygote | CFTR-RD-causing- Undef |
Color code: non disease-causing < likely benign < VUS < likely pathogenic < disease-causing |
CFTR variants are clustered into five groups: |
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