catalog




CFTR-NGS variants catalogue



CFTR-NGS Variant details:
Name NM_000492.4:c.1820_1903del
Protein name NP_000483.3:p.(Met607_Gln634del)
Genomic name (hg19) chr7:g.117232041_117232124del    UCSC    
#Exon/intron exon 14
Legacy Name 1949del84
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass CF-causing
WT sequence ACTAGGATTTTGGTCACTTCTAAAA TGGAAC [72bp] TCCAAA ATCTACAGCCAGACTTTAGCTCAAA
Mutant sequence ACTAGGATTTTGGTCACTTCTAAAA -------------------- ATCTACAGCCAGACTTTAGCTCAAA


Additional information:
MAF (GnomAD) -
Splicing prediction (SpliceAI) -





External sources:

Not found
dbSNP
no rs

Not found

Not found

Variant validation:
Sanger
(present/not present/not verified)
Minigene
(effect/no effect/not performed)
presentnot performed


No patient found in CFTR-NGS

5 individuals reported in CFTR-France







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