catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117121652A/G


CFTR-NGS Variant details:
Name NM_000492.4:c.53+1451A>G
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117121652A>G    UCSC    gnomAD
#Exon/intron intron 1
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence TCAGGCTGGTTTGCAAAGAAAATGT A TTACAAAGGCTGCTAAGTGTGTTAA
Mutant sequence TCAGGCTGGTTTGCAAAGAAAATGT G TTACAAAGGCTGCTAAGTGTGTTAA


Additional information:
MAF (GnomAD) -
Splicing prediction (SpliceAI) AG: 0.00 (-21)
AL: 0.00 (-39)
DG: 0.00 (16)
DL: 0.00 (-3)




External sources:

Not found

Not found
dbSNP
no rs

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 4700 449





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