Variant NM_000492.4:c.1209+18A>C
Name | NM_000492.4:c.1209+18A>C |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117182180A>C UCSC gnomAD |
#Exon/intron | intron 9 |
Legacy Name | 1341+18A>C |
Class | VUS |
Subclass | VUS1 |
WT sequence | GGGAGGAGGTCAGAATTTTTAAAAA A TTGTTTGCTCTAAACACCTAACTGT |
Mutant sequence | GGGAGGAGGTCAGAATTTTTAAAAA C TTGTTTGCTCTAAACACCTAACTGT |
Not found | dbSNP rs193922499 | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 2 |
---|---|
CF | 1 |
CFTR-RD | 1
|
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
CF | 340 | heterozygote | CF-causing - Cis CF-causing - Trans |
CBAVD | 403 | heterozygote | CF-causing - Cis CFTR-RD-causing - Trans |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
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