catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117175349A/G


CFTR-NGS Variant details:
Name NM_000492.4:c.627A>G
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117175349A>G    UCSC    gnomAD
#Exon/intron exon 6
Legacy Name A209A (759A/G)
Type in CFTR-NGS catalogue -
Class in CFTR-France VUS
Subclass VUS3
WT sequence TGTGGATCGCTCCTTTGCAAGTGGC A CTCCTCATGGGGCTAATCTGGGAGT
Mutant sequence TGTGGATCGCTCCTTTGCAAGTGGC G CTCCTCATGGGGCTAATCTGGGAGT


Additional information:
MAF (GnomAD) 2.10e-05
Splicing prediction (SpliceAI) AG: 0.02 (-47)
AL: 0.00 (34)
DG: 0.00 (33)
DL: 0.00 (-10)




External sources:

Not found		dbSNP
rs397508773
Not found

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



6 individuals carrying this variant are reported in CFTR-France


2 individuals (out of 136) carrying this variant are reported in CFTR-NGS catalogue:

TOTAL NUMBER OF INDIVIDUALS 2
CF 2



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m6426CFMontpellier230414_varilhheterozygous PASS 3714 451
P1BCFMontpellier230414_varilhheterozygous PASS 2439 260





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