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ABCA3

ATP binding cassette subfamily A member 3

HCNC Approved Symbol
ABCA3 (HGNC:33)
Genomic Coordinates
16:2,275,881 - 2,340,728 (16p13.3)
Synonyms
ABC-C, EST111653, LBM180, ABC3
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the ABCA3 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Tachypnea
 2 (100.0%)
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