Variant NM_000492.4:c.1766+3A>C
Name | NM_000492.4:c.1766+3A>C |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117230496A>C UCSC gnomAD |
#Exon/intron | intron 13 |
Legacy Name | 1898+3A>C |
Class | disease-causing |
Subclass | CF-causing |
WT sequence | ACAGAAAAAGAAATATTTGAAAGGT A TGTTCTTTGAATACCTTACTTATAA |
Mutant sequence | ACAGAAAAAGAAATATTTGAAAGGT C TGTTCTTTGAATACCTTACTTATAA |
Not found | dbSNP no rs | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 3 |
---|---|
CF | 2 |
CFTR-RD | 1
|
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
CF | 1285 | heterozygote | VUS3 - Trans CF-causing - Trans VUS1 - Trans |
CF | 5672 | heterozygote | VUS3 - Trans CF-causing - Trans VUS1 - Trans |
CBAVD | 2751 | heterozygote | CFTR-RD-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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