Variant NM_000492.4:c.3274T>C
Name | NM_000492.4:c.3274T>C |
Protein name | NP_000483.3:p.(Tyr1092His) |
Genomic name (hg19) | chr7:g.117251769T>C UCSC gnomAD |
#Exon/intron | exon 20 |
Legacy Name | Y1092H |
Class | VUS |
Subclass | VUS3 |
WT sequence | TTTACATACTGCCAACTGGTTCTTG T ACCTGTCAACACTGCGCTGGTTCCA |
Mutant sequence | TTTACATACTGCCAACTGGTTCTTG C ACCTGTCAACACTGCGCTGGTTCCA |
Not found | dbSNP rs376968326 |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 3 |
---|---|
CF | 2 |
CFTR-RD | 1
|
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
CF | 4893 | heterozygote | CF-causing - Trans CFTR-RD-causing- Undef VUS1- Undef |
CF | 4903 | heterozygote | CF-causing - Trans CFTR-RD-causing- Undef VUS1- Undef |
Bronchiectasis | 5950 | 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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