rs2062048292
This variant is located in the CTNND1 gene.
▶ClinVar annotation
Cleft lip with or without cleft palate; Blepharocheilodontic syndrome 2
View on ClinVar →About CTNND1
This gene encodes a member of the Armadillo protein family, which function in adhesion between cells and signal transduction. Multiple translation initiation codons and alternative splicing result in many different isoforms being translated. Not all of the full-length natures of the described transcript variants have been determined. Read-through transcription also exists between this gene and the neighboring upstream thioredoxin-related transmembrane protein 2 (TMX2) gene. [provided by RefSeq, Dec 2010]
View all CTNND1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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