chr14:23424059:C>T Detail (hg38) (MYH7)

Information

Genome

Assembly Position
hg19 chr14:23,893,268-23,893,268 View the variant detail on this assembly version.
hg38 chr14:23,424,059-23,424,059

HGVS

Type Transcript Protein
RefSeq NM_000257.3:c.2770G>A NP_000248.2:p.Glu924Lys
Ensemble ENST00000355349.4:c.2770G>A ENST00000355349.4:p.Glu924Lys
ENST00000713768.1:c.2770G>A ENST00000713768.1:p.Glu924Lys
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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 tgv386543256 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
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 2022-05-09 criteria provided, single submitter not provided germline Detail
Pathogenic 2023-12-14 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy germline Detail
Pathogenic 2021-10-18 criteria provided, single submitter germline Detail
Pathogenic 2018-10-31 criteria provided, single submitter dilated cardiomyopathy 1S,hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy,MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter dilated cardiomyopathy 1S,hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy,MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter dilated cardiomyopathy 1S,hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy,MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter dilated cardiomyopathy 1S,hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy,MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter dilated cardiomyopathy 1S,hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy,MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter dilated cardiomyopathy 1S,hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy,MYH7-related skeletal myopathy,Congenital myopathy with fiber type disproportion unknown Detail
Pathogenic 2022-05-31 criteria provided, single submitter cardiomyopathy germline Detail
Pathogenic criteria provided, single submitter Left ventricular noncompaction cardiomyopathy germline Detail
Pathogenic 2022-09-07 criteria provided, single submitter MYH7-related disorder 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
Annotation

Annotations

DescrptionSourceLinks
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) AND Hypertrophic cardiomyopathy 1 ClinVar Detail
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) AND not provided ClinVar Detail
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) AND Cardiovascular phenotype ClinVar Detail
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) AND Cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) AND Left ventricular noncompaction cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) AND MYH7-related disorder ClinVar Detail
NA 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
rs121913628 dbSNP
Genome
hg38
Position
chr14:23,424,059-23,424,059
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser