Hs06121664_cn

• Gene Symbol: MYOT
• Assay Reference Genome Location: Chr.5:137879310 on build GRCh38
• Cytoband: 5q31.2

Target Gene Details

• Entrez Gene ID: 9499
• Gene Name: myotilin
• Gene Aliases: LGMD1, LGMD1A, MFM3, TTID, TTOD
• Location: Chr.5:137867282-137887851 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MYOT	NM_001135940.1			NP_001129412.1
	NM_001300911.1			NP_001287840.1
	NM_006790.2			NP_006781.1
	XM_017010060.1			XP_016865549.1
	XM_017010061.1			XP_016865550.1
	XM_017010062.1			XP_016865551.1
	AF133820.2			AAD29051.2
	AF144477.1			AAD44754.1
	AK300076.1
	AK300088.1
	AK307620.1
	AK312733.1
	BC005376.1			AAH05376.1
	KU178476.1
	KU178477.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv830501	Chr.5:137788777 - 137977035 on Build GRCh38	Gain	MYOT FAM13B PKD2L2 NPY6R
esv3606913	Chr.5:137856857 - 138124533 on Build GRCh38	Gain	MYOT LOC100130172 NME5 FAM13B PKD2L2 WNT8A

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

muscle contraction

Function(s)

actin binding
protein binding
structural constituent of muscle
alpha-actinin binding