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FSHD2

Chr 18

structural maintenance of chromosomes flexible hinge domain containing 1

Also known as: BAMS, FSHD2

This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011]

GeneReviewsResearchGenerating clinical summary…
Clinical SummaryFSHD2
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
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GeneReview available — FSHD2
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (3)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/FSHD2?content-type=application/json&expand=1

gnomad: Error: Gene not found

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

FSHD2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.