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Variant (rsID / SNP)

rs139695699

ABCA3

rs139695699 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA3. Location: chromosome 16, position 2,369,821. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ABCA3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:2369821
Cytoband
16p13.3
HGVS
NM_001089.3(ABCA3):c.634C>A (p.Leu212Met)
Allele change
Missense_L212M

Associated conditions / phenotypes

Interstitial lung disease due to ABCA3 deficiency

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.