chr14:23419913:CCT> Detail (hg38) (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	chr14:23,889,122-23,889,124
hg38	chr14:23,419,913-23,419,915

HGVS

MYH7

Type	Transcript	Protein
RefSeq	NM_000257.3:c.3656_3658delAGG	NP_000248.2:p.Glu1220del
Ensemble	ENST00000355349.4:c.3656_3658delAGG	ENST00000355349.4:p.Glu1220del
	ENST00000713768.1:c.3656_3658delAGG	ENST00000713768.1:p.Glu1220del
	ENST00000713769.1:c.3656_3658delAGG	ENST00000713769.1:p.Glu1220del

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
Show details

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
Likely pathogenic	2014-01-14	criteria provided, single submitter	left ventricular noncompaction	germline	Detail
Uncertain significance	2022-02-04	criteria provided, single submitter		germline	Detail
Uncertain significance	2021-03-22	reviewed by expert panel	Ebstein anomaly	germline	Detail
Uncertain significance	2021-10-05	criteria provided, single submitter	hypertrophic cardiomyopathy	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.3658_3660del (p.Glu1220del) AND Left ventricular noncompaction	ClinVar	Detail
NM_000257.4(MYH7):c.3658_3660del (p.Glu1220del) AND Cardiovascular phenotype	ClinVar	Detail
NM_000257.4(MYH7):c.3658_3660del (p.Glu1220del) AND Ebstein anomaly	ClinVar	Detail
NM_000257.4(MYH7):c.3658_3660del (p.Glu1220del) AND Hypertrophic cardiomyopathy	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: rs397516190 dbSNP
Genome: hg38
Position: chr14:23,419,913-23,419,915
Variant Type: snv
Reference Allele: CCT
Alternative Allele: -

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