chr14:23884384:CAG> Detail (hg19) (MYH7)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr14:23,884,384-23,884,386
hg38	chr14:23,415,175-23,415,177

HGVS

MYH7

Type	Transcript	Protein
RefSeq	NM_000257.3:c.5377_5379delCTG	NP_000248.2:p.Leu1793del
Ensemble	ENST00000713769.1:c.5377_5379delCTG	ENST00000713769.1:p.Leu1793del
	ENST00000713768.1:c.5377_5379delCTG	ENST00000713768.1:p.Leu1793del
	ENST00000355349.4:c.5377_5379delCTG	ENST00000355349.4:p.Leu1793del

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

MYH7

Type	Database	ID	Link
Gene	MIM	160760	OMIM
	HGNC	7577	HGNC
	Ensembl	ENSG00000092054	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2013-01-01	no assertion criteria provided	MYH7-related skeletal myopathy,dilated cardiomyopathy 1S	germline	Detail
Pathogenic	2013-01-01	no assertion criteria provided	MYH7-related skeletal myopathy,dilated cardiomyopathy 1S	germline	Detail
not provided		no assertion provided	MYH7-related skeletal myopathy	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	CARDIOMYOPATHY, DILATED, 1S	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000257.4(MYH7):c.5378_5380del (p.Leu1793del) AND multiple conditions	ClinVar	Detail
NM_000257.4(MYH7):c.5378_5380del (p.Leu1793del) AND multiple conditions	ClinVar	Detail
NM_000257.4(MYH7):c.5378_5380del (p.Leu1793del) AND MYH7-related skeletal myopathy	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs587779396 dbSNP
Genome: hg19
Position: chr14:23,884,384-23,884,386
Variant Type: snv
Reference Allele: CAG
Alternative Allele: -

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