Variant NM_000492.4:c.1397C>G
Name | NM_000492.4:c.1397C>G |
Protein name | NP_000483.3:p.(Ser466*) |
Genomic name (hg19) | chr7:g.117199522C>G UCSC gnomAD |
#Exon/intron | exon 11 |
Legacy Name | S466X(TAG) |
Class | disease-causing |
Subclass | CF-causing |
WT sequence | AATGATGGGTTTTATTTCCAGACTT C ACTTCTAATGGTGATTATGGGAGAA |
Mutant sequence | AATGATGGGTTTTATTTCCAGACTT G ACTTCTAATGGTGATTATGGGAGAA |
dbSNP rs121908805 | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 5 |
---|---|
CF | 5 |
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
CF | 5697 | heterozygote | varying clinical consequence - Cis CF-causing - Trans |
CF | 1926 | heterozygote | CF-causing - Trans |
CF | 4917 | heterozygote | CF-causing- Undef |
CF | 4930 | heterozygote | CF-causing - Cis CF-causing - Trans |
CF | 1271 | homozygote | c.1397C>G - p.(Ser466*) - Trans c.3209G>A - p.(Arg1070Gln) - Trans |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
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