rs77570029

This variant is located in the TMEM237 gene.

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ClinVar annotation

Likely Benign★★★☆
5 submitters2 publications

not specified; Joubert syndrome 14; not provided

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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]

View all TMEM237 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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