rs529314817

This variant is located in the SPECC1L gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters

Teebi hypertelorism syndrome 1; Inborn genetic diseases

About SPECC1L

This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]

View all SPECC1L variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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