Entrez Gene ID	1756
Official Gene Symbol	DMD (GeneCards)
Full name	dystrophin
Location	Xp21.2-p21.1
Other ids	Vega : OTTHUMG00000021336 MIM : 300377 HGNC : HGNC:2928 Ensembl : ENSG00000198947
Other names	BMD, CMD3B, MRX85, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272
Summary	This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016]

Variants

Found 51 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
136	1756	DMD	X	31950298	31950298	X linked dilated cardiomyopathy3B	RFLP
137	1756	DMD	X	31950298	31950298	X linked dilated cardiomyopathy3B	RFLP
330	1756	DMD	X	31496447	31496447	Duchenne muscular dystrophy	RFLP RTPCR
331	1756	DMD	X	31496447	31496447	Duchenne muscular dystrophy	RFLP RTPCR
544	1756	DMD	X	31241177	31241177	Becker muscular dystrophy/Duchenne muscular dystrophy	RFLP RTPCR PCR RFLP
546	1756	DMD	X	32834738	32834738	Duchenne muscular dystrophy	RFLP RTPCR PCR RFLP DHPLC
567	1756	DMD	X	31950199	31950199	Duchenne muscular dystrophy	RFLP RTPCR PCR RFLP DHPLC ABI310
568	1756	DMD	X	31950199	31950199	Duchenne muscular dystrophy	RFLP RTPCR PCR RFLP DHPLC ABI310
569	1756	DMD	X	31950199	31950199	Duchenne muscular dystrophy	RFLP RTPCR PCR RFLP DHPLC ABI310
570	1756	DMD	X	31950199	31950199	Duchenne muscular dystrophy	RFLP RTPCR PCR RFLP DHPLC ABI310
698	1756	DMD	X	32235155	32235155	Duchene muscular dystrophy	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger
1253	1756	DMD	X	32383221	32383221	Autism Spectrum Disorders	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2
22008	1756	DMD	X	33012261	33012261	Asymptomatic	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten
22022	1756	DMD	X	32416382	32416382	Asymptomatic	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten
22028	1756	DMD	X	33584791	33584791	Asymptomatic	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten
22029	1756	DMD	X	33986200	33986200	Asymptomatic	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten
22050	1756	DMD	X	33183540	33183540	Asymptomatic	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten
22123	1756	DMD	X	32468869	32468869	Asymptomatic	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten
22129	1756	DMD	X	31735134	31735134	Asymptomatic	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten
22130	1756	DMD	X	32301692	32301692	Asymptomatic	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten
22152	1756	DMD	X	32415551	32415551	Asymptomatic	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten
22153	1756	DMD	X	33907155	33907155	Asymptomatic	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten
22154	1756	DMD	X	33964509	33964509	Asymptomatic	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten
22161	1756	DMD	X	32265547	32265547	Asymptomatic	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten
22196	1756	DMD	X	32503794	32503794	Asymptomatic	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten
22202	1756	DMD	X	32788111	32788111	Asymptomatic	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten
22241	1756	DMD	X	32304363	32304363	Asymptomatic	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten
22253	1756	DMD	X	32571291	32571291	Asymptomatic	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten
22263	1756	DMD	X	32580931	32580931	Asymptomatic	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten
22279	1756	DMD	X	33882403	33882403	Cockayne syndrome	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten
22292	1756	DMD	X	32253800	32253800	Cockayne syndrome	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten
22303	1756	DMD	X	32351395	32351395	Cockayne syndrome	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten
22304	1756	DMD	X	32428652	32428652	Cockayne syndrome	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten
22372	1756	DMD	X	33626340	33626340	Xeroderma Pigmentosum	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten
22388	1756	DMD	X	33012345	33012345	Xeroderma Pigmentosum	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten
24139	1756	DMD	X	32634564	32634564	Asymptomatic	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten Single cell Sequencing Cell cloning
24152	1756	DMD	X	31353123	31353123	Asymptomatic	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten Single cell Sequencing Cell cloning
24153	1756	DMD	X	31893357	31893357	Asymptomatic	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten Single cell Sequencing Cell cloning
24179	1756	DMD	X	33315344	33315344	Asymptomatic	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten Single cell Sequencing Cell cloning
24224	1756	DMD	X	33625086	33625086	Asymptomatic	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten Single cell Sequencing Cell cloning
24265	1756	DMD	X	32634564	32634564	Asymptomatic	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten Single cell Sequencing Cell cloning
24298	1756	DMD	X	33194122	33194122	Asymptomatic	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten Single cell Sequencing Cell cloning
28877	1756	DMD	X	31770394	31770394	Asymptomatic	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten Single cell Sequencing Cell cloning
28913	1756	DMD	X	32369774	32369774	Asymptomatic	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten Single cell Sequencing Cell cloning
28914	1756	DMD	X	33239048	33239048	Asymptomatic	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten Single cell Sequencing Cell cloning
28959	1756	DMD	X	31245700	31245700	Asymptomatic	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten Single cell Sequencing Cell cloning
28960	1756	DMD	X	32698577	32698577	Asymptomatic	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten Single cell Sequencing Cell cloning
29053	1756	DMD	X	32800117	32800117	Asymptomatic	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten Single cell Sequencing Cell cloning
29323	1756	DMD	X	32509609	32509609	Autism Spectrum Disorders	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten Single cell Sequencing Cell cloning PASM
29942	1756	DMD	X	32383221	32383221	Autism Spectrum Disorders	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten Single cell Sequencing Cell cloning PASM NextSeq500
34605	1756	DMD	X	32155291	32155291	Asymptomatic	RFLP RTPCR PCR RFLP DHPLC ABI310 Sanger NextSeq500 v2 HiSeq X Ten Single cell Sequencing Cell cloning PASM NextSeq500 Whole Genome Sequencing Ion Torrent PGM Sequencing

DMD (Entrez ID: 1756)

Variants