rs1260531370

This variant is located in the HIBCH gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter1 publication

3-hydroxyisobutyryl-CoA hydrolase deficiency

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About HIBCH

This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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