Variant NM_000492.4:c.1466C>T
Name | NM_000492.4:c.1466C>T |
Protein name | NP_000483.3:p.(Ser489Leu) |
Genomic name (hg19) | chr7:g.117199591C>T UCSC gnomAD |
#Exon/intron | exon 11 |
Legacy Name | S489L |
Class | VUS |
Subclass | VUS4 |
WT sequence | AAAATTAAGCACAGTGGAAGAATTT C ATTCTGTTCTCAGTTTTCCTGGATT |
Mutant sequence | AAAATTAAGCACAGTGGAAGAATTT T ATTCTGTTCTCAGTTTTCCTGGATT |
Not found | Not found | dbSNP rs397508211 |
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 |
---|---|---|---|
CBAVD | 908 | heterozygote | VUS3 - Cis VUS1 - Cis VUS3 - Trans VUS1 - Trans |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
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