chr14:23900677:C>T Detail (hg19) (MYH7)

Information

Genome

Assembly Position
hg19 chr14:23,900,677-23,900,677
hg38 chr14:23,431,468-23,431,468 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000257.3:c.746G>A NP_000248.2:p.Arg249Gln
Ensemble ENST00000355349.4:c.746G>A ENST00000355349.4:p.Arg249Gln
ENST00000713768.1:c.746G>A ENST00000713768.1:p.Arg249Gln
Summary

MGeND

Clinical significance Likely pathogenic Pathogenic
Variant entry 3
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
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 COSM954783 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic HCM germline MGS000009
(TMGS000039) 		Shoji Tsuji Tokyo University
Pathogenic cardiomyopathy, familial hypertrophic germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
Pathogenic cardiomyopathy, familial hypertrophic germline MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-02-23 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy 1 germline unknown Detail
Pathogenic Likely pathogenic 2022-05-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2024-01-07 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy germline Detail
Pathogenic 2021-10-21 criteria provided, single submitter germline Detail
Pathogenic 2018-10-31 criteria provided, single submitter MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1S,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1S,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1S,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1S,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1S,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1S,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy unknown Detail
Pathogenic 2019-01-09 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Cardiomyopathy, Familial Hypertrophic, 1 (disorder) NA CLINVAR Detail
0.252 Cardiomyopathy, Hypertrophic, Familial NA CLINVAR Detail
0.360 Cardiomyopathy, Familial Hypertrophic, 1 (disorder) Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypert... UNIPROT 10065021 Detail
0.252 Cardiomyopathy, Hypertrophic, Familial Whole exome sequencing analysis revealed a R249Q-MYH7 mutation associated previo... BeFree 24298987 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) AND Hypertrophic cardiomyopathy 1 ClinVar Detail
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) AND not provided ClinVar Detail
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) AND Cardiovascular phenotype ClinVar Detail
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) AND Cardiomyopathy ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopath... DisGeNET Detail
Whole exome sequencing analysis revealed a R249Q-MYH7 mutation associated previously with familial h... 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
rs3218713 dbSNP
Genome
hg19
Position
chr14:23,900,677-23,900,677
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser