219700.24

Country

Lebanon

HPO Terms

Abnormality of the respiratory system; Meconium ileus
Back to search Result
Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

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

Remarks

Compound heterozygous patient from family 'A2' in the publication (2nd mutation unknown)
© CAGS 2024. All rights reserved.