chr11:47361309:G>A Detail (hg19) (MYBPC3)

Information

Genome

Assembly Position
hg19 chr11:47,361,309-47,361,309
hg38 chr11:47,339,758-47,339,758 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000256.3:c.1960C>T NP_000247.2:p.Arg654Cys
Ensemble ENST00000399249.6:c.1960C>T ENST00000399249.6:p.Arg654Cys
ENST00000545968.6:c.1960C>T ENST00000545968.6:p.Arg654Cys
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 Uncertain significance
Review star
Show details
Links
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 COSM4033158 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2024-01-03 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy germline Detail
Uncertain significance 2022-10-11 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
Uncertain significance 2021-10-07 criteria provided, single submitter hypertrophic cardiomyopathy 4,Left ventricular noncompaction 10 unknown Detail
Uncertain significance 2021-10-07 criteria provided, single submitter hypertrophic cardiomyopathy 4,Left ventricular noncompaction 10 unknown Detail
Uncertain significance 2019-04-04 criteria provided, single submitter not provided germline Detail
Uncertain significance 2022-04-07 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.252 Cardiomyopathy, Dilated NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000256.3(MYBPC3):c.1960C>T (p.Arg654Cys) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.1960C>T (p.Arg654Cys) AND Cardiomyopathy ClinVar Detail
NM_000256.3(MYBPC3):c.1960C>T (p.Arg654Cys) AND multiple conditions ClinVar Detail
NM_000256.3(MYBPC3):c.1960C>T (p.Arg654Cys) AND multiple conditions ClinVar Detail
NM_000256.3(MYBPC3):c.1960C>T (p.Arg654Cys) AND not provided ClinVar Detail
NM_000256.3(MYBPC3):c.1960C>T (p.Arg654Cys) AND Cardiovascular phenotype 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
rs397515939 dbSNP
Genome
hg19
Position
chr11:47,361,309-47,361,309
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Homozygous Counts in All Race (ExAC)
0
East Asian Chromosome Counts (ExAC)
8624
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)
120584
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
8.292974192264313E-6
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