chr14:23898487:C>T Detail (hg19) (MYH7)

Information

Genome

Assembly Position
hg19 chr14:23,898,487-23,898,487
hg38 chr14:23,429,278-23,429,278 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000257.3:c.1208G>A NP_000248.2:p.Arg403Gln
Ensemble ENST00000355349.4:c.1208G>A ENST00000355349.4:p.Arg403Gln
ENST00000713768.1:c.1208G>A ENST00000713768.1:p.Arg403Gln
Summary

MGeND

Clinical significance Likely pathogenic
Variant entry 1
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
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic dHCM with hypertrophic phase germline MGS000009
(TMGS000039) 		Shoji Tsuji Tokyo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2017-08-01 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy 1 germline Detail
Pathogenic 2017-06-16 criteria provided, single submitter Primary familial hypertrophic cardiomyopathy germline Detail
Pathogenic 2023-12-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2016-12-15 reviewed by expert panel hypertrophic cardiomyopathy de novo germline Detail
Pathogenic 2022-03-09 criteria provided, single submitter cardiomyopathy germline Detail
Pathogenic 2023-04-11 criteria provided, single submitter germline Detail
Pathogenic 2021-10-15 criteria provided, single submitter dilated cardiomyopathy 1S,hypertrophic cardiomyopathy 1,Myosin storage myopathy,MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,Myopathy, myosin storage, autosomal recessive unknown Detail
Pathogenic 2021-10-15 criteria provided, single submitter dilated cardiomyopathy 1S,hypertrophic cardiomyopathy 1,Myosin storage myopathy,MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,Myopathy, myosin storage, autosomal recessive unknown Detail
Pathogenic 2021-10-15 criteria provided, single submitter dilated cardiomyopathy 1S,hypertrophic cardiomyopathy 1,Myosin storage myopathy,MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,Myopathy, myosin storage, autosomal recessive unknown Detail
Pathogenic 2021-10-15 criteria provided, single submitter dilated cardiomyopathy 1S,hypertrophic cardiomyopathy 1,Myosin storage myopathy,MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,Myopathy, myosin storage, autosomal recessive unknown Detail
Pathogenic 2021-10-15 criteria provided, single submitter dilated cardiomyopathy 1S,hypertrophic cardiomyopathy 1,Myosin storage myopathy,MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,Myopathy, myosin storage, autosomal recessive unknown Detail
Pathogenic 2021-10-15 criteria provided, single submitter dilated cardiomyopathy 1S,hypertrophic cardiomyopathy 1,Myosin storage myopathy,MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion,Myopathy, myosin storage, autosomal recessive unknown Detail
Pathogenic 2023-11-14 criteria provided, single submitter MYH7-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.054 hypertrophic cardiomyopathy Faster cross-bridge detachment and increased tension cost in human hypertrophic ... BeFree 24928957 Detail
0.360 Cardiomyopathy, Familial Hypertrophic, 1 (disorder) NA CLINVAR Detail
0.163 Cardiomyopathies The R403L mutation in the MYH7 gene had been previously identified in this famil... BeFree 15386449 Detail
0.252 Cardiomyopathy, Hypertrophic, Familial NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) AND Hypertrophic cardiomyopathy 1 ClinVar Detail
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) AND not provided ClinVar Detail
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) AND Cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) AND Cardiovascular phenotype ClinVar Detail
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) AND MYH7-related disorder ClinVar Detail
Faster cross-bridge detachment and increased tension cost in human hypertrophic cardiomyopathy with ... DisGeNET Detail
NA DisGeNET Detail
The R403L mutation in the MYH7 gene had been previously identified in this family, characterized by ... DisGeNET 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
rs121913624 dbSNP
Genome
hg19
Position
chr14:23,898,487-23,898,487
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser