chr14:23429279:G>A Detail (hg38) (MYH7)

Information

Genome

Assembly Position
hg19 chr14:23,898,488-23,898,488 View the variant detail on this assembly version.
hg38 chr14:23,429,279-23,429,279

HGVS

Type Transcript Protein
RefSeq NM_000257.3:c.1207C>T NP_000248.2:p.Arg403Trp
Ensemble ENST00000355349.4:c.1207C>T ENST00000355349.4:p.Arg403Trp
ENST00000713768.1:c.1207C>T ENST00000713768.1:p.Arg403Trp
Summary

MGeND

Clinical significance
Variant entry
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 COSM954779 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-03-22 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy 1 germline unknown Detail
Pathogenic 2021-10-22 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2016-12-15 reviewed by expert panel hypertrophic cardiomyopathy germline Detail
Pathogenic 2021-12-28 criteria provided, single submitter Myopathy, myosin storage, autosomal recessive,Congenital myopathy with fiber type disproportion,MYH7-related skeletal myopathy,hypertrophic cardiomyopathy 1,Myosin storage myopathy,dilated cardiomyopathy 1S unknown Detail
Pathogenic 2021-12-28 criteria provided, single submitter Myopathy, myosin storage, autosomal recessive,Congenital myopathy with fiber type disproportion,MYH7-related skeletal myopathy,hypertrophic cardiomyopathy 1,Myosin storage myopathy,dilated cardiomyopathy 1S unknown Detail
Pathogenic 2021-12-28 criteria provided, single submitter Myopathy, myosin storage, autosomal recessive,Congenital myopathy with fiber type disproportion,MYH7-related skeletal myopathy,hypertrophic cardiomyopathy 1,Myosin storage myopathy,dilated cardiomyopathy 1S unknown Detail
Pathogenic 2021-12-28 criteria provided, single submitter Myopathy, myosin storage, autosomal recessive,Congenital myopathy with fiber type disproportion,MYH7-related skeletal myopathy,hypertrophic cardiomyopathy 1,Myosin storage myopathy,dilated cardiomyopathy 1S unknown Detail
Pathogenic 2021-12-28 criteria provided, single submitter Myopathy, myosin storage, autosomal recessive,Congenital myopathy with fiber type disproportion,MYH7-related skeletal myopathy,hypertrophic cardiomyopathy 1,Myosin storage myopathy,dilated cardiomyopathy 1S unknown Detail
Pathogenic 2021-12-28 criteria provided, single submitter Myopathy, myosin storage, autosomal recessive,Congenital myopathy with fiber type disproportion,MYH7-related skeletal myopathy,hypertrophic cardiomyopathy 1,Myosin storage myopathy,dilated cardiomyopathy 1S unknown Detail
Pathogenic 2023-04-19 criteria provided, single submitter germline Detail
Pathogenic 2022-11-18 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) The origins of hypertrophic cardiomyopathy-causing mutations in two South Africa... UNIPROT 10521296 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) AND Hypertrophic cardiomyopathy 1 ClinVar Detail
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) AND not provided ClinVar Detail
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) AND Cardiovascular phenotype ClinVar Detail
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) AND Cardiomyopathy ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a ... 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
rs3218714 dbSNP
Genome
hg38
Position
chr14:23,429,279-23,429,279
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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