CFTR-NGS variants catalogue
Name | NM_000492.4:c.481T>G |
Protein name | NP_000483.3:p.(Tyr161Asp) |
Genomic name (hg19) | chr7:g.117171160T>G UCSC gnomAD |
#Exon/intron | exon 4 |
Legacy Name | Y161D |
Type in CFTR-NGS catalogue | - |
Class in CFTR-France | disease-causing |
WT sequence | GAGAATAGCTATGTTTAGTTTGATT T ATAAGAAGGTAATACTTCCTTGCAC |
Mutant sequence | GAGAATAGCTATGTTTAGTTTGATT G ATAAGAAGGTAATACTTCCTTGCAC |
MAF (GnomAD) | - |
Splicing prediction (SpliceAI) | - |
dbSNP no rs |
Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
present | not performed |