chr14:23893250:C>G Detail (hg19) (MYH7)

Information

Genome

Assembly Position
hg19 chr14:23,893,250-23,893,250
hg38 chr14:23,424,041-23,424,041 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000257.3:c.2788G>C NP_000248.2:p.Glu930Gln
Ensemble ENST00000713768.1:c.2788G>C ENST00000713768.1:p.Glu930Gln
ENST00000355349.4:c.2788G>C ENST00000355349.4:p.Glu930Gln
Summary

MGeND

Clinical significance
Variant entry
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-02-27 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2022-01-10 criteria provided, single submitter Congenital myopathy with fiber type disproportion,MYH7-related skeletal myopathy,hypertrophic cardiomyopathy 1,Myosin storage myopathy,dilated cardiomyopathy 1S,Myopathy, myosin storage, autosomal recessive unknown Detail
Pathogenic 2022-01-10 criteria provided, single submitter Congenital myopathy with fiber type disproportion,MYH7-related skeletal myopathy,hypertrophic cardiomyopathy 1,Myosin storage myopathy,dilated cardiomyopathy 1S,Myopathy, myosin storage, autosomal recessive unknown Detail
Pathogenic 2022-01-10 criteria provided, single submitter Congenital myopathy with fiber type disproportion,MYH7-related skeletal myopathy,hypertrophic cardiomyopathy 1,Myosin storage myopathy,dilated cardiomyopathy 1S,Myopathy, myosin storage, autosomal recessive unknown Detail
Pathogenic 2022-01-10 criteria provided, single submitter Congenital myopathy with fiber type disproportion,MYH7-related skeletal myopathy,hypertrophic cardiomyopathy 1,Myosin storage myopathy,dilated cardiomyopathy 1S,Myopathy, myosin storage, autosomal recessive unknown Detail
Pathogenic 2022-01-10 criteria provided, single submitter Congenital myopathy with fiber type disproportion,MYH7-related skeletal myopathy,hypertrophic cardiomyopathy 1,Myosin storage myopathy,dilated cardiomyopathy 1S,Myopathy, myosin storage, autosomal recessive unknown Detail
Pathogenic 2022-01-10 criteria provided, single submitter Congenital myopathy with fiber type disproportion,MYH7-related skeletal myopathy,hypertrophic cardiomyopathy 1,Myosin storage myopathy,dilated cardiomyopathy 1S,Myopathy, myosin storage, autosomal recessive unknown Detail
Pathogenic Likely pathogenic 2023-07-13 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy germline Detail
Pathogenic 2021-08-09 criteria provided, single submitter cardiomyopathy germline Detail
Pathogenic 2022-10-16 criteria provided, single submitter dilated cardiomyopathy 1S unknown Detail
Pathogenic 2022-10-16 criteria provided, single submitter MYH7-related skeletal myopathy unknown Detail
Pathogenic 2022-10-16 criteria provided, single submitter hypertrophic cardiomyopathy 1 unknown Detail
Pathogenic 2022-10-16 criteria provided, single submitter Myopathy, myosin storage, autosomal recessive unknown Detail
Pathogenic 2022-10-16 criteria provided, single submitter Myosin storage myopathy unknown Detail
Likely pathogenic 2023-11-08 criteria provided, single submitter germline Detail
Pathogenic 2024-01-15 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.2788G>C (p.Glu930Gln) AND not provided ClinVar Detail
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) AND Cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) AND Dilated cardiomyopathy 1S ClinVar Detail
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) AND MYH7-related skeletal myopathy ClinVar Detail
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) AND Hypertrophic cardiomyopathy 1 ClinVar Detail
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) AND Myopathy, myosin storage, autosomal recessive ClinVar Detail
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) AND Myosin storage myopathy ClinVar Detail
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) AND Cardiovascular phenotype ClinVar Detail
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) 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
rs397516171 dbSNP
Genome
hg19
Position
chr14:23,893,250-23,893,250
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser