Variant NM_000492.4:c.-2C>T
Name | NM_000492.4:c.-2C>T |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117120147C>T UCSC gnomAD |
#Exon/intron | UTR 5 |
Class | VUS |
Subclass | VUS3 |
WT sequence | AGCAGGGACCCCAGCGCCCGAGAGA C CATGCAGAGGTCGCCTCTGGAAAAG |
Mutant sequence | AGCAGGGACCCCAGCGCCCGAGAGA T CATGCAGAGGTCGCCTCTGGAAAAG |
Not found | Not found | dbSNP no rs | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 1 |
---|---|
CFTR-RD | 1
|
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
Pancreatitis | 4916 | heterozygote | VUS3- Undef |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
|