rs1449689929

This variant is located in the NPTN gene.

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ClinVar annotation

Conflicting Classifications
2 submitters1 publication

Developmental disorder; NPTN-related neurodevelopmental disorder

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About NPTN

This gene encodes a type I transmembrane protein belonging to the Ig superfamily. The protein is believed to be involved in cell-cell interactions or cell-substrate interactions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2009]

View all NPTN variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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