CFTR-NGS variants catalogue
Name | NM_000492.4:c.4124A>C |
Protein name | NP_000483.3:p.(His1375Pro) |
Genomic name (hg19) | chr7:g.117304902A>C UCSC gnomAD |
#Exon/intron | exon 25 |
Legacy Name | H1375P |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | disease-causing |
WT sequence | TTGCTGCTTGATGAACCCAGTGCTC A TTTGGATCCAGTGTGAGTTTCAGAT |
Mutant sequence | TTGCTGCTTGATGAACCCAGTGCTC C TTTGGATCCAGTGTGAGTTTCAGAT |
MAF (GnomAD) | - |
Splicing prediction (SpliceAI) | - |
dbSNP no rs |
Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
present | not performed |