catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117123359A/G


CFTR-NGS Variant details:
Name NM_000492.4:c.53+3158A>G
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117123359A>G    UCSC    gnomAD
#Exon/intron intron 1
Type in CFTR-NGS catalogue -
Class in CFTR-France non disease-causing
WT sequence CTAAATAATACATAAATTTCTTCTC A TAAGTATATATTAGCCACATTATTT
Mutant sequence CTAAATAATACATAAATTTCTTCTC G TAAGTATATATTAGCCACATTATTT


Additional information:
MAF (GnomAD) 1.40e-05
Splicing prediction (SpliceAI) AG: 0.00 (5)
AL: 0.00 (29)
DG: 0.00 (-1)
DL: 0.00 (-11)




External sources:

Not found

Not found
dbSNP
rs1264197967

Not found

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



4 individuals carrying this variant are reported in CFTR-France


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

TOTAL NUMBER OF INDIVIDUALS 3
CF 3



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m6426CFMontpellier230414_varilhheterozygous PASS 1912 294
P1BCFMontpellier230414_varilhheterozygous PASS 2035 305
9886CFMontpellier160218_varilhheterozygous PASS 1096 93





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