Variant NM_000492.4:c.4137-89A>G
Name | NM_000492.4:c.4137-89A>G |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117305424A>G UCSC gnomAD |
#Exon/intron | intron 25 |
Class | VUS |
Subclass | VUS3 |
WT sequence | ACTTAAAGAAATAAGTAATTTAAAG A GATAATAGAACAATAGACATATTAT |
Mutant sequence | ACTTAAAGAAATAAGTAATTTAAAG G GATAATAGAACAATAGACATATTAT |
Not found | dbSNP rs140881282 | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 1 |
---|---|
CF | 1 |
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
CF | 1260 | homozygote | c.1210-34_1210-6TG[10]T[8] - Trans c.4137-89A>G - p.(=) - Trans c.4242+1G>A - p.(=) - Trans |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
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