Variant (rsID / SNP)
rs149989682
rs149989682 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA3. Location: chromosome 16, position 2,367,764. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ABCA3Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:2367764
- Cytoband
- 16p13.3
- HGVS
- NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)
- Allele change
- Missense_E292V
Associated conditions / phenotypes
Interstitial 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
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.