rs142789001

This variant is located in the UFC1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter1 publication

Neurodevelopmental disorder with spasticity and poor growth

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About UFC1

UFC1 is an E2-like conjugating enzyme for ubiquitin-fold modifier-1 (UFM1; MIM 610553) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Mar 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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