Variant NM_000492.4:c.3191_3192insTTTTAAGCTTAAAAGG
Name | NM_000492.4:c.3191_3192insTTTTAAGCTTAAAAGG |
Protein name | NP_000483.3:p.(Leu1065Phefs*16) |
Genomic name (hg19) | chr7:g.117251686_117251687insTTTTAAGCTTAAAAGG UCSC |
#Exon/intron | exon 20 |
Class | disease-causing |
Subclass | CF-causing |
WT sequence | TTACAAGCTTAAAAGGACTATGGAC ---------------- ACTTCGTGCCTTCGGACGGCAGCCT |
Mutant sequence | TTACAAGCTTAAAAGGACTATGGAC TTTTAAGCTTAAAAGG ACTTCGTGCCTTCGGACGGCAGCCT |
Not found | Not found | dbSNP no rs | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 1 |
---|---|
Fetal bowel anomalies | 1 |
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
Fetal bowel anomalies | 1565 | heterozygote | VUS2 - Cis 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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