chr14:23895180:G>A Detail (hg19) (MYH7)

Information

Genome

Assembly Position
hg19 chr14:23,895,180-23,895,180
hg38 chr14:23,425,971-23,425,971 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000257.3:c.2155C>T NP_000248.2:p.Arg719Trp
Ensemble ENST00000355349.4:c.2155C>T ENST00000355349.4:p.Arg719Trp
ENST00000713768.1:c.2155C>T ENST00000713768.1:p.Arg719Trp
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
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 COSM403676 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic cardiomyopathy, familial hypertrophic germline MGS000082
(TMGS000165) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Mutation View
Likely pathogenic cardiomyopathy, familial hypertrophic germline MGS000001
(TMGS000174) 		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 2019-04-16 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy 1 germline Detail
Pathogenic 2021-11-24 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2021-07-19 criteria provided, single submitter germline Detail
Pathogenic 2016-12-15 reviewed by expert panel hypertrophic cardiomyopathy germline Detail
Pathogenic 2023-01-27 criteria provided, single submitter cardiomyopathy germline Detail
Pathogenic 2019-09-24 criteria provided, single submitter Primary familial hypertrophic cardiomyopathy germline Detail
Pathogenic criteria provided, single submitter dilated cardiomyopathy 1S germline Detail
Pathogenic 2021-11-15 criteria provided, single submitter hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy,Congenital myopathy with fiber type disproportion,dilated cardiomyopathy 1S,MYH7-related skeletal myopathy unknown Detail
Pathogenic 2021-11-15 criteria provided, single submitter hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy,Congenital myopathy with fiber type disproportion,dilated cardiomyopathy 1S,MYH7-related skeletal myopathy unknown Detail
Pathogenic 2021-11-15 criteria provided, single submitter hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy,Congenital myopathy with fiber type disproportion,dilated cardiomyopathy 1S,MYH7-related skeletal myopathy unknown Detail
Pathogenic 2021-11-15 criteria provided, single submitter hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy,Congenital myopathy with fiber type disproportion,dilated cardiomyopathy 1S,MYH7-related skeletal myopathy unknown Detail
Pathogenic 2021-11-15 criteria provided, single submitter hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy,Congenital myopathy with fiber type disproportion,dilated cardiomyopathy 1S,MYH7-related skeletal myopathy unknown Detail
Pathogenic 2021-11-15 criteria provided, single submitter hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy,Congenital myopathy with fiber type disproportion,dilated cardiomyopathy 1S,MYH7-related skeletal myopathy unknown 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
0.163 Cardiomyopathies The novel double mutation of Ala26Val plus Arg719Trp in MYH7 identified in a Chi... BeFree 19645038 Detail
0.163 Cardiomyopathies In a small cohort of HCM patients (n=8), we searched for mutations in the two mo... BeFree 23816408 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) AND Hypertrophic cardiomyopathy 1 ClinVar Detail
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) AND not provided ClinVar Detail
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) AND Cardiovascular phenotype ClinVar Detail
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) AND Cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) AND Dilated cardiomyopathy 1S ClinVar Detail
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
The novel double mutation of Ala26Val plus Arg719Trp in MYH7 identified in a Chinese family highligh... DisGeNET Detail
In a small cohort of HCM patients (n=8), we searched for mutations in the two most common genes resp... 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
rs121913637 dbSNP
Genome
hg19
Position
chr14:23,895,180-23,895,180
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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