catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117124087G/T


CFTR-NGS Variant details:
Name NM_000492.4:c.53+3886G>T
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117124087G>T    UCSC    gnomAD
#Exon/intron intron 1
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence TGATACACTATTAAAAATTCATCAT G ATGATTTTGTATTTACATTTTATTT
Mutant sequence TGATACACTATTAAAAATTCATCAT T ATGATTTTGTATTTACATTTTATTT


Additional information:
MAF (GnomAD) 6.98e-06
Splicing prediction (SpliceAI) AG: 0.00 (46)
AL: 0.00 (-3)
DG: 0.00 (-39)
DL: 0.00 (40)




External sources:

Not found
Not found		dbSNP
rs927655149
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
Infertility 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m9438InfertilityMontpellier150419_Altieriheterozygous PASS 3698 239





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