catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117193319A/C


CFTR-NGS Variant details:
Name NM_000492.4:c.1392+4442A>C
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117193319A>C    UCSC    gnomAD
#Exon/intron intron 10
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence CACACACATGCACACACATTTAAAT A GATGCATAGTATTCTATCATATGGA
Mutant sequence CACACACATGCACACACATTTAAAT C GATGCATAGTATTCTATCATATGGA


Additional information:
MAF (GnomAD) 4.89e-05
Splicing prediction (SpliceAI) AG: 0.00 (10)
AL: 0.00 (2)
DG: 0.00 (8)
DL: 0.00 (-3)




External sources:

Not found

Not found
dbSNP
rs983745313

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
CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
P1BCFMontpellier230414_varilhheterozygous PASS 2510 307





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