rs137868995

This is a variant in the MYMK gene that changes a proline to an threonine.

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ClinVar annotation

Pathogenic★★★☆
13 submitters7 publications

Carey-Fineman-Ziter syndrome 1 (CFZS1); Congenital nonprogressive myopathy with Moebius and Robin sequences; MYMK-related disorder

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About MYMK

Involved in myoblast fusion. Located in plasma membrane. Implicated in Carey-Fineman-Ziter syndrome. [provided by Alliance of Genome Resources, Apr 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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