Variant NM_000492.4:c.54-5811_164+2186delins182
Name | NM_000492.4:c.54-5811_164+2186delins182 |
Protein name | NP_000483.3:p.? |
Genomic name (hg19) | chr7:g.117138496_117146603delins182 UCSC |
#Exon/intron | intron 1 |
Class | disease-causing |
Subclass | CF-causing |
WT sequence | AATCAGAGGAGGGGAAATTAGTAAC TTGACC [8096bp] CTTTGA ATATCTAAGTTTTAATTGGATGCTG |
Mutant sequence | AATCAGAGGAGGGGAAATTAGTAAC 182------------------- ATATCTAAGTTTTAATTGGATGCTG |
Not found | Not found | dbSNP no rs | Not found | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 9 |
---|---|
CF | 7 |
CFTR-RD | 1
|
Pending (NBS) | 1 |
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
Pending (NBS) | 4689 | heterozygote | CF-causing - Trans |
CF | 132 | heterozygote | CF-causing - Trans VUS1 - Trans |
CF | 195 | heterozygote | CF-causing - Trans VUS1- Undef |
CF | 204 | heterozygote | CF-causing - Trans VUS3- Undef |
CF | 652 | heterozygote | CF-causing - Trans |
CF | 1251 | heterozygote | varying clinical consequence - Trans |
CF | 4853 | heterozygote | CF-causing - Trans |
CF | 4096 | heterozygote | CF-causing - Trans |
CBAVD | 537 | heterozygote | varying clinical consequence - Trans |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
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