Variant (rsID / SNP)

rs45480502

rs45480502 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA3. Location: chromosome 16, position 2,369,774. Clinical significance in the table: Benign.

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Reference-table entries

ABCA3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:2369774
Cytoband: 16p13.3
HGVS: NM_001089.3(ABCA3):c.681C>T (p.Ala227=)
Allele change: Synonymous_A227A

Associated conditions / phenotypes

Interstitial lung disease due to ABCA3 deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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