catalog




CFTR-NGS variants catalogue



CFTR-NGS Variant details:
Name NM_000492.4:c.3752G>A
Protein name NP_000483.3:p.(Ser1251Asn)
Genomic name (hg19) chr7:g.117282526G>A    UCSC    gnomAD
#Exon/intron exon 23
Legacy Name S1251N
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass CF-causing
WT sequence TTGGGAAGAACTGGATCAGGGAAGA G TACTTTGTTATCAGCTTTTTTGAGA
Mutant sequence TTGGGAAGAACTGGATCAGGGAAGA A TACTTTGTTATCAGCTTTTTTGAGA


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

External sources:
dbSNP
no rs

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


Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C45 0.00166 0 0.993
VUS4 VUS5 VUS5 VUS5
Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing


No patient found in CFTR-NGS

18 individuals reported in CFTR-France







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