Variant NM_000492.4:c.3808G>A
Name | NM_000492.4:c.3808G>A | ||||
Protein name | NP_000483.3:p.(Asp1270Asn) | ||||
Genomic name (hg19) | chr7:g.117282582G>A UCSC gnomAD | ||||
#Exon/intron | exon 23 | ||||
Legacy Name | D1270N | ||||
Class | disease-causing | ||||
Subclass | CFTR-RD-causing | ||||
complex allele in 70.27% of patients associated with WT sequence |
GAACACTGAAGGAGAAATCCAGATC G ATGGTGTGTCTTGGGATTCAATAAC |
Mutant sequence |
GAACACTGAAGGAGAAATCCAGATC A ATGGTGTGTCTTGGGATTCAATAAC |
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![]() | dbSNP rs11971167 |
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Modulator | FDA approval | EMA approval | in vitro / ex vivo data | clinical data |
IVA | yes | no | yes | no |
TEZ-IVA | yes | no | yes | no |
ELX-TEZ-IVA | yes | no | yes | no |
clinical and functional data are provided by Vertex
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
2 individuals carrying this variant are reported in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 74 |
---|---|
Asymptomatic compound heterozygote | 7 |
CF | 4 |
CFTR-RD | 50
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Pending | 5 |
Pending (NBS) | 8 |
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
Other | 3076 | heterozygote | CFTR-RD-causing - Cis CF-causing - Trans |
Other | 4767 | heterozygote | CFTR-RD-causing - Cis CF-causing - Trans |
Other | 5075 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Cis CF-causing - Trans |
Other | 1124 | heterozygote | CFTR-RD-causing - Cis varying clinical consequence- Undef |
Other | 4702 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Cis CF-causing - Trans |
Other | 5383 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Cis CF-causing - Trans |
Other | 3138 | homozygote | c.220C>T - p.(Arg74Trp) - Trans c.3808G>A - p.(Asp1270Asn) - Trans c.601G>A - p.(Val201Met) - Trans |
Pending | 3073 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Cis CF-causing - Trans |
Pending | 4337 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Cis CF-causing - Trans |
Pending | 4336 | heterozygote | CFTR-RD-causing - Cis CF-causing - Trans |
Pending | 4078 | heterozygote | CFTR-RD-causing - Cis CF-causing- Undef |
Pending | 4819 | heterozygote | CFTR-RD-causing- Undef CF-causing- Undef |
CBAVD | 2347 | heterozygote | CFTR-RD-causing- Undef CFTR-RD-causing- Undef CFTR-RD-causing- Undef |
CBAVD | 5875 | heterozygote | CFTR-RD-causing- Undef CF-causing- Undef CFTR-RD-causing- Undef |
CBAVD | 5872 | heterozygote | CFTR-RD-causing- Undef CFTR-RD-causing- Undef CFTR-RD-causing- Undef |
CBAVD | 3208 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Cis CF-causing- Undef |
CBAVD | 4556 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Cis CF-causing- Undef |
CBAVD | 4224 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Cis VUS2 - Trans |
CBAVD | 3324 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Cis CF-causing - Trans |
CBAVD | 5866 | heterozygote | CFTR-RD-causing- Undef CF-causing- Undef CFTR-RD-causing- Undef |
CBAVD | 5519 | heterozygote | CF-causing- Undef CFTR-RD-causing- Undef CFTR-RD-causing- Undef |
CBAVD | 5223 | heterozygote | CF-causing- Undef CFTR-RD-causing- Undef CFTR-RD-causing- Undef |
CBAVD | 892 | heterozygote | CFTR-RD-causing- Undef varying clinical consequence- Undef CFTR-RD-causing- Undef |
CBAVD | 751 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Cis CF-causing - Trans |
CBAVD | 697 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Cis varying clinical consequence - Trans |
CBAVD | 565 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Cis VUS4- Undef VUS1- Undef |
CBAVD | 543 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Cis CF-causing - Trans |
CBAVD | 503 | heterozygote | CFTR-RD-causing- Undef CFTR-RD-causing- Undef CFTR-RD-causing- Undef |
CBAVD | 4956 | heterozygote | varying clinical consequence- Undef CFTR-RD-causing- Undef CFTR-RD-causing- Undef |
CBAVD | 1269 | heterozygote | CF-causing- Undef CFTR-RD-causing- Undef CFTR-RD-causing- Undef |
CBAVD | 1294 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Cis CFTR-RD-causing- Undef |
CBAVD | 1366 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Cis CF-causing- Undef |
CBAVD | 1412 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Cis varying clinical consequence- Undef |
CBAVD | 660 | homozygote | c.220C>T - p.(Arg74Trp) - Trans c.3808G>A - p.(Asp1270Asn) - Trans c.601G>A - p.(Val201Met) - Trans |
CBAVD | 1456 | homozygote | c.220C>T - p.(Arg74Trp) - Trans c.3808G>A - p.(Asp1270Asn) - Trans c.601G>A - p.(Val201Met) - Trans |
CBAVD | 507 | homozygote | c.220C>T - p.(Arg74Trp) - Trans c.3808G>A - p.(Asp1270Asn) - Trans c.601G>A - p.(Val201Met) - Trans |
Asymptomatic compound heterozygote | 2777 | heterozygote | CFTR-RD-causing - Cis CF-causing - Trans |
Asymptomatic compound heterozygote | 3156 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Cis CF-causing - Trans |
Asymptomatic compound heterozygote | 4517 | heterozygote | CFTR-RD-causing - Cis VUS1 - Trans |
Asymptomatic compound heterozygote | 3794 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Cis CF-causing - Trans |
Asymptomatic compound heterozygote | 314 | heterozygote | CFTR-RD-causing - Cis CF-causing - Trans |
Asymptomatic compound heterozygote | 4989 | heterozygote | CFTR-RD-causing - Cis CF-causing - Trans |
Asymptomatic compound heterozygote | 782 | homozygote | c.220C>T - p.(Arg74Trp) - Trans c.3808G>A - p.(Asp1270Asn) - Trans c.601G>A - p.(Val201Met) - Trans |
CF | 5993 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Cis CF-causing - Trans |
CF | 382 | heterozygote | VUS3 - Cis CFTR-RD-causing - Cis CFTR-RD-causing - Cis CF-causing - Trans |
CF | 5285 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Cis CF-causing - Trans |
CF | 5059 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Cis CF-causing - Trans |
Pending (NBS) | 6090 | heterozygote | CF-causing- Undef CFTR-RD-causing- Undef CFTR-RD-causing- Undef |
Pending (NBS) | 5996 | heterozygote | CF-causing- Undef |
Pending (NBS) | 4593 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Cis CF-causing - Trans |
Pending (NBS) | 5313 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Cis CF-causing - Trans |
Pending (NBS) | 5853 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Cis CF-causing - Trans |
Pending (NBS) | 991 | heterozygote | CFTR-RD-causing- Undef varying clinical consequence- Undef |
Pending (NBS) | 5703 | heterozygote | VUS3 - Cis CFTR-RD-causing - Cis CFTR-RD-causing - Cis CF-causing - Trans |
Pending (NBS) | 5446 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Cis CF-causing - Trans |
Aquagenic palmoplantar keratoderma | 5470 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Cis CFTR-RD-causing- Undef |
Pancreatitis | 2302 | heterozygote | CFTR-RD-causing - Cis |
Pancreatitis | 4894 | heterozygote | CFTR-RD-causing- Undef |
Pancreatitis | 2538 | heterozygote | CFTR-RD-causing- Undef CFTR-RD-causing- Undef |
Pancreatitis | 2327 | heterozygote | CFTR-RD-causing - Cis |
Pancreatitis | 2242 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Cis CFTR-RD-causing- Undef |
Pancreatitis | 2137 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Cis CF-causing- Undef |
Pancreatitis | 2033 | heterozygote | CFTR-RD-causing - Cis CF-causing- Undef |
Pancreatitis | 5623 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Cis CFTR-RD-causing - Trans |
Pancreatitis | 5620 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Cis |
Pancreatitis | 3315 | heterozygote | CFTR-RD-causing - Cis VUS2 - Trans |
Pancreatitis | 5869 | heterozygote | CFTR-RD-causing- Undef VUS3- Undef |
Pancreatitis | 5741 | heterozygote | CF-causing- Undef |
Pancreatitis | 5396 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Cis CF-causing - Trans |
Bronchiectasis | 5896 | heterozygote | CFTR-RD-causing - Cis VUS3- Undef |
Bronchiectasis | 5897 | heterozygote | VUS3- Undef VUS1- Undef CFTR-RD-causing- Undef |
Bronchiectasis | 5464 | heterozygote | CFTR-RD-causing- Undef CFTR-RD-causing- Undef |
CRS-NP | 3143 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - Cis CF-causing - Trans |
CRS-NP | 5994 | heterozygote | CFTR-RD-causing - Cis CFTR-RD-causing - 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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