Variant NM_000492.4:c.2989-1698_3469-4461del
Name | NM_000492.4:c.2989-1698_3469-4461del |
Protein name | NP_000483.3:p.(Leu997_Leu1156del) |
Genomic name (hg19) | chr7:g.117248875_117263115del UCSC |
#Exon/intron | intron 18 |
Class | disease-causing |
Subclass | CF-causing |
WT sequence | CAGAAGCAGATCTGTTGCACAAAAT AAAGCA [14229bp] TAAAAT TAAATAATGAAACCAATAATTTAAA |
Mutant sequence | CAGAAGCAGATCTGTTGCACAAAAT ----------------------- TAAATAATGAAACCAATAATTTAAA |
Not found | Not found | dbSNP no rs | Not found | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 2 |
---|---|
CF | 1 |
Pending (NBS) | 1 |
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
Pending (NBS) | 951 | heterozygote | VUS2- Undef VUS4- Undef |
CF | 5044 | 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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