MYOD1 myogenic differentiation 1

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Information

Symbol: MYOD1
Type: protein-coding
Description: myogenic differentiation 1
Entrez Gene ID: 4654
Genome: hg19
Position: chr11:17,741,118-17,743,683
Genome: hg38
Position: chr11:17,719,571-17,722,136
MIM: 159970 OMIM
HGNC: HGNC:7611 HGNC
Ensembl: ENSG00000129152 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	6
Benign	0	10
Likely benign	0	24
not provided	7	0
Uncertain significance	0	52

Ranking

	ClinVar
	0
	0
	8
	76
	4

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

Locus Zoom

Variants

Search Word

Target data	:	MGeND data only
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Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	MGeND				Genome	ClinVar			CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

Search Word

Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Search Word

Target data	:	MGeND data only
Category	:
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Filtering	:

Name	MGeND				Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	CMYP17
SYNONYM	MYF3
SYNONYM	MYOD
SYNONYM	MYODRIF
SYNONYM	PUM
SYNONYM	bHLHc1
MIM	159970 OMIM
HGNC	HGNC:7611 HGNC
Ensembl	ENSG00000129152 Ensembl
AllianceGenome	HGNC:7611

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000250003.4	hg38	chr11	17,719,571	17,722,136	2,566
ENST00000250003.4	hg19	chr11	17,741,118	17,743,683	2,566

Key	Value
strand	+
start	17,741,109
Gene Symbol	MYOD1
Entrez GeneId	4,654
Chr Band	11p15.4
end	17,743,677
chr	chr11
Name	myogenic differentiation 1

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