catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117148900G/A


CFTR-NGS Variant details:
Name NM_000492.4:c.165-188G>A
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117148900G>A    UCSC    gnomAD
#Exon/intron intron 2
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence TCCCTGCACAGTGATATATGGCAGA G CATTGAATTCTGCCAAATATCTGGC
Mutant sequence TCCCTGCACAGTGATATATGGCAGA A CATTGAATTCTGCCAAATATCTGGC


Additional information:
MAF (GnomAD) 1.03e-03
Splicing prediction (SpliceAI) AG: 0.00 (-14)
AL: 0.00 (-1)
DG: 0.00 (40)
DL: 0.00 (23)




External sources:

Not found

Not found
dbSNP
rs56045614

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


2 individuals (out of 136) carrying this variant are reported in CFTR-NGS catalogue:

TOTAL NUMBER OF INDIVIDUALS 2
CFTR-RD1
  • CFTR-RD  1
Pending (NBS) 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m8107CFTR-RDMontpellier150419_Altieriheterozygous PASS 2569 324
26Pending (NBS)Montpellier150517_varilhheterozygous PASS 2427 195





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