Variant NM_000492.4:c.1679G>A
Name | NM_000492.4:c.1679G>A |
Protein name | NP_000483.3:p.(Arg560Lys) |
Genomic name (hg19) | chr7:g.117227887G>A UCSC gnomAD |
#Exon/intron | exon 12 |
Legacy Name | R560K |
Class | disease-causing |
Subclass | CF-causing |
WT sequence | CAACGAGCAAGAATTTCTTTAGCAA G GTGAATAACTAATTATTGGTCTAGC |
Mutant sequence | CAACGAGCAAGAATTTCTTTAGCAA A GTGAATAACTAATTATTGGTCTAGC |
dbSNP rs80055610 |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 6 |
---|---|
CF | 6 |
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
CF | 601 | heterozygote | CF-causing- Undef |
CF | 1572 | heterozygote | CF-causing - Trans |
CF | 1573 | heterozygote | CF-causing - Trans |
CF | 3433 | heterozygote | CF-causing - Trans |
CF | 3456 | heterozygote | CF-causing- Undef |
CF | 4048 | heterozygote | CF-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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