catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117120601G/A


CFTR-NGS Variant details:
Name NM_000492.4:c.53+400G>A
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117120601G>A    UCSC    gnomAD
#Exon/intron intron 1
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence CTTGGCACATACAGGTGCCATGCCT G CATATAGTAAGTGCTCAGAAAACAT
Mutant sequence CTTGGCACATACAGGTGCCATGCCT A CATATAGTAAGTGCTCAGAAAACAT


Additional information:
MAF (GnomAD) 4.05e-04
Splicing prediction (SpliceAI) AG: 0.00 (2)
AL: 0.05 (-11)
DG: 0.00 (3)
DL: 0.00 (6)




External sources:

Not found
Not found		dbSNP
rs901328504
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
cad190201Pending (NBS)Montpellier150419_Altieriheterozygous PASS 2565 232





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