Gene entry
ABCA3
ATP binding cassette subfamily A member 3
- Chromosome
- 16
- Cytoband
- 16p13.3
- Variants (rsID)
- 20
ABCA3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16p13.3). Its official name is “ATP binding cassette subfamily A member 3”. The reference table lists 20 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs117031141Benignsingle nucleotide variantInterstitial lung disease due to ABCA3 deficiency
- rs45480502Benignsingle nucleotide variantInterstitial lung disease due to ABCA3 deficiency
- rs139695699Conflicting interpretationssingle nucleotide variantInterstitial lung disease due to ABCA3 deficiency
- rs141621969Conflicting interpretationssingle nucleotide variantInterstitial lung disease due to ABCA3 deficiency
- rs149989682Conflicting interpretationssingle nucleotide variantInterstitial lung disease due to ABCA3 deficiency|Diffuse interstitial pulmonary fibrosis|Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies|Pulmonary arterial hypertension|Pulmonary insufficiency|Respiratory insufficiency|Idiopathic Pulmonary Fibrosis
- rs35089233Conflicting interpretationssingle nucleotide variantInterstitial lung disease due to ABCA3 deficiency
- rs137924161Uncertain significancesingle nucleotide variant
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.