CFTR-NGS variants catalogue
Name | NM_000492.4:c.1601C>A |
Protein name | NP_000483.3:p.(Ala534Glu) |
Genomic name (hg19) | chr7:g.117227809C>A UCSC gnomAD |
#Exon/intron | exon 12 |
Legacy Name | A534E |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | VUS |
Subclass | VUS2 |
WT sequence | TGGTAATAGGACATCTCCAAGTTTG C AGAGAAAGACAATATAGTTCTTGGA |
Mutant sequence | TGGTAATAGGACATCTCCAAGTTTG A AGAGAAAGACAATATAGTTCTTGGA |
MAF (GnomAD) | - |
Splicing prediction (SpliceAI) | - |
Not found | dbSNP no rs |
Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
present | not performed |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
No patient found in CFTR-NGS |
4 individuals reported in CFTR-France |