catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117134664A/C


CFTR-NGS Variant details:
Name NM_000492.4:c.54-9643A>C
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117134664A>C    UCSC    gnomAD
#Exon/intron intron 1
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence AATATGGGTATTTCTGTCAAAGGAC A GAGAAACCTAGTAGAGAGTATTTAC
Mutant sequence AATATGGGTATTTCTGTCAAAGGAC C GAGAAACCTAGTAGAGAGTATTTAC


Additional information:
MAF (GnomAD) 6.98e-06
Splicing prediction (SpliceAI) AG: 0.00 (-3)
AL: 0.00 (2)
DG: 0.00 (42)
DL: 0.00 (-19)




External sources:

Not found
Not found		dbSNP
rs1048521910
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
5543Pending (NBS)Montpellier40216_varilhheterozygous PASS 1539 171





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