Hs00740933_cn

• Gene Symbol: MYOF
• Assay Reference Genome Location: Chr.10:93319952 on build GRCh38
• Cytoband: 10q23.33

Target Gene Details

• Entrez Gene ID: 26509
• Gene Name: myoferlin
• Gene Aliases: FER1L3
• Location: Chr.10:93306429-93482504 on Build GRCh38
• Assay Gene Location: Within Exon 53

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MYOF	NM_013451.3	49	5641	NP_038479.1
	NM_133337.2	48	5602	NP_579899.1
	XM_005269693.4	50	5877	XP_005269750.1
	XM_005269694.4	49	5838	XP_005269751.1
	XM_011539632.2	51	6071	XP_011537934.1
	XM_017016068.1	49	5458	XP_016871557.1
	XM_017016069.1	49	5503	XP_016871558.1
	AB033033.2	49	5518	BAA86521.2
	AF182316.1	49	5614	AAF27176.1
	AF207990.1	48	5479	AAG23737.1
	AK075258.1	13	1356
	AK093890.1
	AL096713.1	29	3626	CAB46370.1
	BC052617.1	38	4154	AAH52617.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv7494	Chr.10:93316110 - 93351114 on Build GRCh38	Insertion	MYOF

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

membrane trafficking regulatory protein

Gene Ontology Categories:

Process(es)

plasma membrane repair
muscle contraction
blood circulation
regulation of vascular endothelial growth factor receptor signaling pathway
cellular response to heat

Function(s)

protein binding
phospholipid binding