Variant NM_000492.4:c.3963+69A>G
Name | NM_000492.4:c.3963+69A>G |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117293054A>G UCSC gnomAD |
#Exon/intron | intron 24 |
Class | non disease-causing |
WT sequence | CCAACACAAATGGCTGATATAGCTG A CATCATTCTACACACTTTGTGTGCA |
Mutant sequence | CCAACACAAATGGCTGATATAGCTG G CATCATTCTACACACTTTGTGTGCA |
Not found | dbSNP rs540577876 | Not found |
1 individuals carrying this variant are reported in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 6 |
---|---|
CF | 1 |
CFTR-RD | 5
|
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
CBAVD | 389 | heterozygote | VUS3- Undef VUS1- Undef |
CBAVD | 475 | heterozygote | VUS3- Undef VUS1- Undef CF-causing- Undef |
CBAVD | 725 | heterozygote | VUS3- Undef VUS1- Undef CF-causing- Undef |
CBAVD | 919 | heterozygote | VUS3- Undef VUS1- Undef CF-causing- Undef |
Bronchiectasis | 777 | heterozygote | VUS3- Undef VUS1- Undef |
CF | 780 | homozygote | c.1210-34_1210-6TG[11]T[5] - Trans c.1684G>A - p.(Val562Ile) - Trans c.2215del - p.(Val739Tyrfs*16) - Trans |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
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