rs755257040

This variant is located in the TMEM87B gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About TMEM87B

This gene encodes a protein that may interact with human papillomavirus type 18 E6 oncogene. The protein is also likely to be involved in endosome-to-trans-Golgi network retrograde transport. The gene is expressed in adult and fetal tissues, including brain and heart. This gene is a component of the 2q13 deletion syndrome. Mutations in this gene may be associated with congenital heart defects. [provided by RefSeq, Aug 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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