rs372990477
This variant is located in the MEGF8 gene.
▶ClinVar annotation
Uncertain Significance★★★☆
3 submitters2 publicationsMEGF8-related Carpenter syndrome; not provided
View on ClinVar →About MEGF8
The protein encoded by this gene is a single-pass type I membrane protein of unknown function that contains several EGF-like domains, Kelch repeats, and PSI domains. Defects in this gene are a cause of Carpenter syndrome 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
View all MEGF8 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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