rs200883351
This variant is located in the SHANK1 gene.
▶ClinVar annotation
About SHANK1
This gene encodes a member of the SHANK (SH3 domain and ankyrin repeat containing) family of proteins. Members of this family act as scaffold proteins that are required for the development and function of neuronal synapses. Deletions in this gene may be associated with autism spectrum disorder in males. [provided by RefSeq, Apr 2016]
View all SHANK1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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