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SMCHD1

Chr 18p11.32

structural maintenance of chromosomes flexible hinge domain containing 1

Aliases:
KIAA0650, FSHD2
MANE:
ENST00000320876.11

Predicted protein structure

Detailed annotations are loading.

We have HGNC metadata for this gene, but the deeper annotations (ClinVar, gnomAD, PanelApp, …) populate when someone uses the GenoLens extension to look up this gene. Install the extension or check back in a moment.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.

SMCHD1 (KIAA0650, FSHD2) — Clinical Variants & Annotations | GenoLens