catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117251839C/A


CFTR-NGS Variant details:
Name NM_000492.4:c.3344C>A
Protein name NP_000483.3:p.(Thr1115Asn)
Genomic name (hg19) chr7:g.117251839C>A    UCSC    gnomAD
#Exon/intron exon 20
Legacy Name T1115N
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence TTTGTCATCTTCTTCATTGCTGTTA C CTTCATTTCCATTTTAACAACAGGT
Mutant sequence TTTGTCATCTTCTTCATTGCTGTTA A CTTCATTTCCATTTTAACAACAGGT


Additional information:
MAF (GnomAD) 7.00e-06
Splicing prediction (SpliceAI) AG: 0.00 (24)
AL: 0.00 (1)
DG: 0.00 (-5)
DL: 0.02 (23)

External sources:

Not found
Not found		dbSNP
rs1200739289

Variant validation:
Sanger
(present/not present/not verified)
 Minigene
(effect/no effect/not performed)
not verifiednot performed


Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
0.04 0.589
no class no class VUS5 VUS4
Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing


No patient found in CFTR-NGS

No patient found in CFTR-France







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