rs140615578

This variant is located in the SEC23IP gene.

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ClinVar annotation

Benign

1 submitter

SEC23IP-related disorder

About SEC23IP

This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi transport as part of the multimeric coat protein II complex. An orthologous gene in frogs is required for normal neural crest cell development, suggesting that this gene may play a role in Waardenburg syndrome neural crest defects. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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