Variant NM_000492.4:c.2919_2920ins121
Name | NM_000492.4:c.2919_2920ins121 |
Protein name | NP_000483.3:p.(Asn974Phefs*41) |
Genomic name (hg19) | chr7:g.117246738_117246739ins121 UCSC |
#Exon/intron | exon 18 |
Class | disease-causing |
Subclass | CF-causing |
WT sequence | CTTGTATATTATAGGTGGGATTCTT --------------------- AATAGATTCTCCAAAGATATAGCAA |
Mutant sequence | CTTGTATATTATAGGTGGGATTCTT TTTTTT [109bp] ATTCTT AATAGATTCTCCAAAGATATAGCAA |
Not found | Not found | dbSNP no rs | Not found | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 2 |
---|---|
CF | 2 |
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
CF | 1581 | heterozygote | CF-causing - Trans |
CF | 2361 | 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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