catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117232400G/T


CFTR-NGS Variant details:
Name NM_000492.4:c.2179G>T
Protein name NP_000483.3:p.(Asp727Tyr)
Genomic name (hg19) chr7:g.117232400G>T    UCSC    gnomAD
#Exon/intron exon 14
Legacy Name D727Y
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence CTTACAAATGAATGGCATCGAAGAG G ATTCTGATGAGCCTTTAGAGAGAAG
Mutant sequence CTTACAAATGAATGGCATCGAAGAG T ATTCTGATGAGCCTTTAGAGAGAAG


Additional information:
MAF (GnomAD) -
Splicing prediction (SpliceAI) AG: 0.00 (19)
AL: 0.01 (-30)
DG: 0.00 (-2)
DL: 0.00 (-30)

External sources:

Not found
Not found		dbSNP
no rs

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


Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
0.05 0.564
no class no class VUS4 VUS4
Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing



No patient found in CFTR-France


1 individual (out of 136) carrying this variant is reported in CFTR-NGS catalogue:

TOTAL NUMBER OF INDIVIDUALS 1
Pending (NBS) 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
1Pending (NBS)Montpellier150517_varilhheterozygous PASS 5201 462





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