Variant NM_000492.4:c.-288G>C
Name | NM_000492.4:c.-288G>C |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117119861G>C UCSC gnomAD |
#Exon/intron | UTR 5 |
Class | VUS |
WT sequence | GCGAAGGAGGAGAGGAGGAAGGAGC G GGAGGGGTGCTGGCGGGGGTGCGTA |
Mutant sequence | GCGAAGGAGGAGAGGAGGAAGGAGC C GGAGGGGTGCTGGCGGGGGTGCGTA |
Not found | Not found | dbSNP no rs | Not found | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 1 |
---|---|
Pending (NBS) | 1 |
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
Pending (NBS) | 5071 | heterozygote | varying clinical consequence- Undef VUS3- Undef |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
|