catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117131919C/T


CFTR-NGS Variant details:
Name NM_000492.4:c.53+11718C>T
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117131919C>T    UCSC    gnomAD
#Exon/intron intron 1
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence ATTCAACCTATAACAATTGATAACA C TCTTTAGGAGCAGAATGCGATATGG
Mutant sequence ATTCAACCTATAACAATTGATAACA T TCTTTAGGAGCAGAATGCGATATGG


Additional information:
MAF (GnomAD) 8.73e-04
Splicing prediction (SpliceAI) AG: 0.00 (8)
AL: 0.00 (-24)
DG: 0.00 (45)
DL: 0.00 (27)




External sources:

Not found

Not found
dbSNP
rs149922616

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
CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m2369CFMontpellier230414_varilhheterozygous PASS 7626 570





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