catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117272765G/T


CFTR-NGS Variant details:
Name NM_000492.4:c.3717+4941G>T
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117272765G>T    UCSC    gnomAD
#Exon/intron intron 22
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence GCTATGTAGAACACTAGTGTTGGTG G CAGGAAGTAGAAAGCAAGAGCACTG
Mutant sequence GCTATGTAGAACACTAGTGTTGGTG T CAGGAAGTAGAAAGCAAGAGCACTG


Additional information:
MAF (GnomAD) 4.92e-03
Splicing prediction (SpliceAI) AG: 0.00 (11)
AL: 0.00 (47)
DG: 0.00 (-8)
DL: 0.00 (-21)




External sources:

Not found
Not found		dbSNP
rs193273640
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
CF 1
CFTR-RD1
  • CFTR-RD  1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
9880CFMontpellier160218_varilhheterozygous PASS 3052 215
P1CoCFTR-RDMontpellier230414_varilhheterozygous PASS 8316 619





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