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Variant (rsID / SNP)

rs35089233

ABCA3

rs35089233 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA3. Location: chromosome 16, position 2,334,358. 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
16:2334358
Cytoband
16p13.3
HGVS
NM_001089.3(ABCA3):c.3784A>G (p.Ser1262Gly)
Allele change
Missense_S1262G

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.