Variant NM_000492.4:c.613_870-1547del
Name | NM_000492.4:c.613_870-1547del |
Protein name | NP_000483.3:p.? |
Genomic name (hg19) | chr7:g.117175335_117178607del UCSC |
#Exon/intron | exon 6 |
Class | disease-causing |
Subclass | CF-causing |
WT sequence | ATTGGCACATTTCGTGTGGATCGCT CCTTTG [3261bp] TTTCCT ATCATTTTATAAATACCAGCCTAGT |
Mutant sequence | ATTGGCACATTTCGTGTGGATCGCT ---------------------- ATCATTTTATAAATACCAGCCTAGT |
Not found | Not found | dbSNP no rs | Not found | 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 | 1234 | 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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