catalog




CFTR-NGS variants catalogue



CFTR-NGS Variant details:
Name NM_000492.4:c.1781T>C
Protein name NP_000483.3:p.(Leu594Pro)
Genomic name (hg19) chr7:g.117232002T>C    UCSC    gnomAD
#Exon/intron exon 14
Legacy Name L594P
Type in CFTR-NGS catalogue -
Class in CFTR-France VUS
WT sequence ATATCTTAAAGCTGTGTCTGTAAAC T GATGGCTAACAAAACTAGGATTTTG
Mutant sequence ATATCTTAAAGCTGTGTCTGTAAAC C GATGGCTAACAAAACTAGGATTTTG


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

External sources:

Not found		dbSNP
no rs

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


Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
0 1
no class no class VUS5 VUS5
Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing


No patient found in CFTR-NGS

No patient found in CFTR-France







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