Hs07084247_cn

• Gene Symbol: L2HGDH
• Assay Reference Genome Location: Chr.14:50245760 on build GRCh38
• Cytoband: 14q21.3

Target Gene Details

• Entrez Gene ID: 79944
• Gene Name: L-2-hydroxyglutarate dehydrogenase
• Gene Aliases: C14orf160, L2HGA
• Location: Chr.14:50242434-50312235 on Build GRCh38
• Assay Gene Location: Within Exon 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
L2HGDH	NM_024884.2	10	2769	NP_079160.1
	XM_005268075.4	11	1849	XP_005268132.1
	XM_017021657.1	12	1861	XP_016877146.1
	BC006117.1			AAH06117.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv564835	Chr.14:50024482 - 50439753 on Build GRCh38	Gain	CDKL1 VCPKMT MIR4504 L2HGDH ATP5S LINC01599 SOS2 MAP4K5
esv28926	Chr.14:49426970 - 50475809 on Build GRCh38	Gain+Loss	MIR6076 CDKL1 RPS29 L2HGDH ATP5S RN7SL1 LOC100506446 DNAAF2 SOS2 POLE2 MAP4K5 KLHDC2 MGAT2 KLHDC1 VCPKMT RPL36AL MIR4504 LRR1 LOC100288910 LINC01599 NEMF ARF6 RN7SL2 LINC01588

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

dehydrogenase, oxidoreductase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

2-oxoglutarate metabolic process
cellular protein metabolic process
oxidation-reduction process

Function(s)

2-hydroxyglutarate dehydrogenase activity