Variant NM_000492.4:c.3923A>C
Name | NM_000492.4:c.3923A>C |
Protein name | NP_000483.3:p.(Glu1308Ala) |
Genomic name (hg19) | chr7:g.117292945A>C UCSC gnomAD |
#Exon/intron | exon 24 |
Legacy Name | E1308A |
Class | VUS |
Subclass | VUS1 |
WT sequence | TTTAGAAAAAACTTGGATCCCTATG A ACAGTGGAGTGATCAAGAAATATGG |
Mutant sequence | TTTAGAAAAAACTTGGATCCCTATG C ACAGTGGAGTGATCAAGAAATATGG |
Not found | Not found | dbSNP no rs |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 1 |
---|---|
CFTR-RD | 1
|
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
Other | 4278 | heterozygote | CFTR-RD-causing- Undef CF-causing- Undef CFTR-RD-causing- Undef 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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