Variant NM_000492.4:c.596A>G


Variant details:
Name NM_000492.4:c.596A>G
Protein name NP_000483.3:p.(His199Arg)
Genomic name (hg19)     chr7:g.117175318A>G    UCSC    
Genomic name (hg38) chr7:g.117535264A>G    UCSC
#Exon/intron exon 6
Legacy Name H199R
Class disease-causing
Subclass CF-causing
WT sequence ATTTTCCAGGGACTTGCATTGGCAC A TTTCGTGTGGATCGCTCCTTTGCAA
Mutant sequence ATTTTCCAGGGACTTGCATTGGCAC G TTTCGTGTGGATCGCTCCTTTGCAA

Other databases:

Not found		dbSNP
rs397508764



Pathogenicity predictors:



Response to modulators:


Modulator FDA approval EMA approval in vitro / ex vivo data clinical data
VNZ-TEZ-DIVA yesnoyesno

clinical and functional data presented above are provided by Vertex


No patient found in CFTR-NGS catalogue


5 patients carrying this variant are reported in CFTR-France:

TOTAL NUMBER OF PATIENTS 5
CF 3
Fetal bowel anomalies 2




Color code:   non disease-causing <   likely benign <   VUS <   likely pathogenic <   disease-causing

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Fetal bowel anomalies 874heterozygoteCF-causing - Trans
Fetal bowel anomalies 1245heterozygoteCF-causing - Trans
CF 4516heterozygoteCF-causing - Trans
CF 6174heterozygoteCF-causing - Trans
CF 6169heterozygoteCF-causing - Trans


Color code:   non disease-causing <   likely benign <   VUS <   likely pathogenic <   disease-causing



            CFTR variants are clustered into five groups (click here for more details about the classification of variants):
  • CF-causing: when in trans with another CF-causing mutation, will result in CF.
  • CFTR-RD causing: when in trans with a CF-causing mutation, will result in CFTR-related disorders (CFTR-RD) such as chronic pancreatitis, bronchiectasis, CRS-NP (chronic rhinosinusitis with or without nasal polyposis) or CBAVD (congenital absence of vas deferens), according to Bombieri C et al., 2011.
  • Varying clinical consequence: when in trans with another CF-causing mutation, can either result in CF or in a CFTR-RD.
  • Non disease-causing: when in trans with a CF-causing mutation, will not cause CF, nor CFTR-RD.
  • VUS (Variant of unknown clinical significance): unclassified because of insufficient data.



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