Variant NM_000492.4:c.912C>G
Name | NM_000492.4:c.912C>G |
Protein name | NP_000483.3:p.(Tyr304*) |
Genomic name (hg19) | chr7:g.117180196C>G UCSC gnomAD |
#Exon/intron | exon 8 |
Legacy Name | Y304X |
Class | disease-causing |
Subclass | CF-causing |
WT sequence | CTCGGAAGGCAGCCTATGTGAGATA C TTCAATAGCTCAGCCTTCTTCTTCT |
Mutant sequence | CTCGGAAGGCAGCCTATGTGAGATA G TTCAATAGCTCAGCCTTCTTCTTCT |
Not found | dbSNP no rs | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 3 |
---|---|
CF | 3 |
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
CF | 5014 | heterozygote | CF-causing - Cis CF-causing - Trans |
CF | 5011 | heterozygote | CF-causing- Undef CF-causing- Undef |
CF | 4022 | heterozygote | CF-causing- Undef |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
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