Variant NM_000492.4:c.53+4A>T
Name | NM_000492.4:c.53+4A>T |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117120205A>T UCSC gnomAD |
#Exon/intron | intron 1 |
Legacy Name | 185+4A>T |
Class | VUS |
Subclass | VUS1 |
WT sequence | TTGTCTCCAAACTTTTTTTCAGGTG A GAAGGTGGCCAACCGAGCTTCGGAA |
Mutant sequence | TTGTCTCCAAACTTTTTTTCAGGTG T GAAGGTGGCCAACCGAGCTTCGGAA |
Not found | dbSNP no rs | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 3 |
---|---|
CF | 1 |
CFTR-RD | 1
|
Pending (NBS) | 1 |
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
CBAVD | 399 | heterozygote | CF-causing- Undef |
Pending (NBS) | 5247 | heterozygote | CF-causing - Cis VUS3 - Trans VUS3 - Trans |
CF | 5355 | heterozygote | CF-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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