catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117255279T/C


CFTR-NGS Variant details:
Name NM_000492.4:c.3468+512T>C
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117255279T>C    UCSC    gnomAD
#Exon/intron intron 21
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence ATTTCTTATTCATGTTGATTACTCA T TTGTCACCTAGTTTTTTCTTCCTTA
Mutant sequence ATTTCTTATTCATGTTGATTACTCA C TTGTCACCTAGTTTTTTCTTCCTTA


Additional information:
MAF (GnomAD) 9.29e-04
Splicing prediction (SpliceAI) AG: 0.00 (12)
AL: 0.00 (38)
DG: 0.00 (2)
DL: 0.00 (38)




External sources:

Not found
Not found		dbSNP
rs374517777
Not found

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



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
6150Pending (NBS)Montpellier40216_varilhheterozygous PASS 5485 579





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