rs200901862

This variant is located in the TMEM147 gene.

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ClinVar annotation

Conflicting Classifications
4 submitters3 publications

Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly; not provided; Inborn genetic diseases

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About TMEM147

Enables ribosome binding activity. Involved in multi-pass transmembrane protein insertion into ER membrane and protein localization to nuclear inner membrane. Located in nuclear membrane. Part of multi-pass translocon complex. Is active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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