Variant NM_000492.4:c.-966T>G
Name | NM_000492.4:c.-966T>G |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117119183T>G UCSC gnomAD |
#Exon/intron | UTR 5 |
Legacy Name | -834T/G ; -895T/G (from the cap site) |
Class | non disease-causing |
WT sequence | TTATCGCTAAAACACTCCAAAGCCT T CCTTAAAAATGCGCACTGGGCTAAA |
Mutant sequence | TTATCGCTAAAACACTCCAAAGCCT G CCTTAAAAATGCGCACTGGGCTAAA |
Not found | dbSNP rs4148682 | Not found | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 8 |
---|---|
CF | 1 |
CFTR-RD | 7
|
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
Other | 4777 | heterozygote | CF-causing- Undef VUS3- Undef |
Other | 1089 | heterozygote | varying clinical consequence- Undef |
Other | 1184 | heterozygote | varying clinical consequence- Undef CFTR-RD-causing- Undef |
Pancreatitis | 4789 | heterozygote | CF-causing- Undef varying clinical consequence- Undef |
Bronchiectasis | 1110 | heterozygote | VUS4- Undef |
CF | 1137 | heterozygote | CF-causing - Cis VUS1 - Cis CF-causing - Trans |
CBAVD | 1177 | heterozygote | varying clinical consequence- Undef |
CBAVD | 1352 | heterozygote | varying clinical consequence - Trans |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
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