rs1020619947

This variant is located in the TMEM237 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Joubert syndrome 14

About TMEM237

The protein encoded by this gene is a tetraspanin protein that is thought to be involved in WNT signaling. Defects in this gene are a cause of Joubert syndrome-14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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