Variant NM_000492.4:c.658C>T
Name | NM_000492.4:c.658C>T |
Protein name | NP_000483.3:p.(Gln220*) |
Genomic name (hg19) | chr7:g.117175380C>T UCSC gnomAD |
#Exon/intron | exon 6 |
Legacy Name | Q220X |
Class | disease-causing |
Subclass | CF-causing |
WT sequence | CATGGGGCTAATCTGGGAGTTGTTA C AGGCGTCTGCCTTCTGTGGACTTGG |
Mutant sequence | CATGGGGCTAATCTGGGAGTTGTTA T AGGCGTCTGCCTTCTGTGGACTTGG |
dbSNP rs397508778 | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 18 |
---|---|
CF | 16 |
CFTR-RD | 1
|
Fetal bowel anomalies | 1 |
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
CF | 4716 | heterozygote | CF-causing - Trans |
CF | 4043 | heterozygote | CF-causing- Undef |
CF | 3832 | heterozygote | CF-causing - Trans |
CF | 3629 | heterozygote | CF-causing - Trans |
CF | 3575 | heterozygote | CF-causing - Trans |
CF | 3476 | heterozygote | CF-causing - Trans |
CF | 2442 | heterozygote | CF-causing- Undef |
CF | 2410 | heterozygote | CF-causing- Undef |
CF | 1998 | heterozygote | CF-causing- Undef |
CF | 1538 | heterozygote | CF-causing - Trans |
CF | 5180 | heterozygote | VUS5 - Trans |
CF | 379 | heterozygote | CF-causing - Trans |
CF | 270 | heterozygote | CF-causing - Trans |
CF | 204 | heterozygote | CF-causing - Trans VUS3- Undef |
CF | 143 | heterozygote | CF-causing - Trans |
CF | 4269 | heterozygote | CF-causing - Trans |
CBAVD | 812 | heterozygote | VUS5 - Trans |
Fetal bowel anomalies | 923 | heterozygote | CF-causing - Trans |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
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