catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117247251G/T


CFTR-NGS Variant details:
Name NM_000492.4:c.2988+444G>T
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117247251G>T    UCSC    gnomAD
#Exon/intron intron 18
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence TGAACACTTTGGCACAGATTAGCTA G CCCATTCCCCCACAGTAAGGACCAT
Mutant sequence TGAACACTTTGGCACAGATTAGCTA T CCCATTCCCCCACAGTAAGGACCAT


Additional information:
MAF (GnomAD) 3.71e-02
Splicing prediction (SpliceAI) AG: 0.00 (16)
AL: 0.00 (1)
DG: 0.00 (14)
DL: 0.00 (46)




External sources:

Not found
Not found		dbSNP
rs34995970
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
CFTR-RD1
  • CFTR-RD  1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
9CFTR-RDMontpellier150517_varilhheterozygous PASS 6965 580





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