219700.56

Country

Saudi Arabia

HPO Terms

Elevated sweat chloride; Exocrine pancreatic insufficiency
Back to search Result
Sex

Female

Family History

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000492.3:c.1418del1NA
NM_000492.3:c.3909C>G1NA

Remarks

Patient number 'CF30' in the publication, compound heterozygous patient
© CAGS 2024. All rights reserved.