ABCA3 p.Leu326Pro
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PMID: 25406294
[PubMed]
Chen P et al: "Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome."
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Sentence
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293
Genetic Variants Identified in ABCA3 in Patients With Surfactant Metabolism Dysfunction-3 (SMDP3) dbSNP rs# Cluster ID Codons Substitution Mutation Type Mutation Mode rs121909181 c.3426G>A W1142X Missense Homozygosity rs121909182 c.301T>C L101P Missense Homozygosity rs121909183 c.4657T>C L1553P Missense Homozygosity rs28936691 c.4772A>C Q1591P Missense Heterozygosity rs121909184 c.1702G>A N568D Missense Heterozygosity - c.4909&#fe;1G>A - Splice site Homozygosity rs121909185 c.977T>C L326P Missense Homozygosity 19.
X
ABCA3 p.Leu326Pro 25406294:293:488
status: NEW