chr11:47333555:A>C Detail (hg38) (MYBPC3)

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

Information

Genome

Assembly	Position
hg19	chr11:47,355,106-47,355,106 View the variant detail on this assembly version.
hg38	chr11:47,333,555-47,333,555

HGVS

MYBPC3

Type	Transcript	Protein
RefSeq	NM_000256.3:c.3190+2T>G
Ensemble	ENST00000399249.6:c.3190+2T>G
	ENST00000545968.6:c.3190+2T>G

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	Pathogenic
Review star
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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2015-11-06	criteria provided, single submitter	Primary familial hypertrophic cardiomyopathy	germline	Detail
Pathogenic	2022-03-16	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2024-01-28	criteria provided, multiple submitters, no conflicts	hypertrophic cardiomyopathy	germline	Detail
Pathogenic	2022-02-25	criteria provided, single submitter		germline	Detail
Pathogenic	2021-01-05	criteria provided, single submitter	cardiomyopathy	germline	Detail
Pathogenic	2020-12-02	criteria provided, single submitter	hypertrophic cardiomyopathy 4	germline	Detail
Pathogenic	2022-04-09	criteria provided, single submitter	Left ventricular noncompaction 10,hypertrophic cardiomyopathy 4	unknown	Detail
Pathogenic	2022-04-09	criteria provided, single submitter	Left ventricular noncompaction 10,hypertrophic cardiomyopathy 4	unknown	Detail

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
NM_000256.3(MYBPC3):c.3190+2T>G AND Primary familial hypertrophic cardiomyopathy	ClinVar	Detail
NM_000256.3(MYBPC3):c.3190+2T>G AND not provided	ClinVar	Detail
NM_000256.3(MYBPC3):c.3190+2T>G AND Hypertrophic cardiomyopathy	ClinVar	Detail
NM_000256.3(MYBPC3):c.3190+2T>G AND Cardiovascular phenotype	ClinVar	Detail
NM_000256.3(MYBPC3):c.3190+2T>G AND Cardiomyopathy	ClinVar	Detail
NM_000256.3(MYBPC3):c.3190+2T>G AND Hypertrophic cardiomyopathy 4	ClinVar	Detail
NM_000256.3(MYBPC3):c.3190+2T>G AND multiple conditions	ClinVar	Detail
NM_000256.3(MYBPC3):c.3190+2T>G AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs113358486 dbSNP
Genome: hg38
Position: chr11:47,333,555-47,333,555
Variant Type: snv
Reference Allele: A
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8482
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 118438
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.6886472247082863E-5

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