Variant NM_000492.4:c.3139+187dup
Name | NM_000492.4:c.3139+187dup |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117250910dup UCSC |
#Exon/intron | intron 19 |
Class | VUS |
Subclass | VUS3 |
WT sequence | TACAAAGTACACATGGATTTTTTTT - CTTAATTAATGACCATGTGACTTCA |
Mutant sequence | TACAAAGTACACATGGATTTTTTTT T CTTAATTAATGACCATGTGACTTCA |
![]() Not found | ![]() Not found | dbSNP no rs | ![]() Not found | ![]() |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 1 |
---|---|
Asymptomatic compound heterozygote | 1 |
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
Asymptomatic compound heterozygote | 4656 | heterozygote | VUS3- Undef VUS2- Undef VUS3- Undef |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
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