chr11:47359111:CTT> Detail (hg19) (MYBPC3)

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

Genome

Assembly	Position
hg19	chr11:47,359,111-47,359,113
hg38	chr11:47,337,560-47,337,562

HGVS

MYBPC3

Type	Transcript	Protein
RefSeq	NM_000256.3:c.2431_2433delAAG	NP_000247.2:p.Lys814del
Ensemble	ENST00000399249.6:c.2431_2433delAAG	ENST00000399249.6:p.Lys814del
	ENST00000545968.6:c.2431_2433delAAG	ENST00000545968.6:p.Lys814del

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

MYBPC3

Type	Database	ID	Link
Gene	MIM	600958	OMIM
	HGNC	7551	HGNC
	Ensembl	ENSG00000134571	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv42451738	TogoVar
	COSMIC	COSM4333931	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.440	Cardiomyopathy, Familial Hypertrophic, 4	NA	CLINVAR		Detail
0.247	Cardiomyopathy, Hypertrophic, Familial	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NA	DisGeNET	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: -
Genome: hg19
Position: chr11:47,359,111-47,359,113
Variant Type: snv
Reference Allele: CTT
Alternative Allele: -
East Asian Chromosome Counts (ExAC): 8612
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.1611704598235021E-4
Chromosome Counts in All Race (ExAC): 120542
Allele Counts in All Race (ExAC): 39
Heterozygous Counts in All Race (ExAC): 39
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.2353868361235087E-4

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