chr14:23425760:C>G Detail (hg38) (MYH7)

Information

Genome

Assembly Position
hg19 chr14:23,894,969-23,894,969 View the variant detail on this assembly version.
hg38 chr14:23,425,760-23,425,760

HGVS

Type Transcript Protein
RefSeq NM_000257.3:c.2221G>C NP_000248.2:p.Gly741Arg
Ensemble ENST00000355349.4:c.2221G>C ENST00000355349.4:p.Gly741Arg
ENST00000713768.1:c.2221G>C ENST00000713768.1:p.Gly741Arg
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic criteria provided, single submitter hypertrophic cardiomyopathy 1 germline Detail
Pathogenic 2021-11-23 criteria provided, single submitter not provided germline Detail
Pathogenic 2016-12-15 reviewed by expert panel hypertrophic cardiomyopathy germline Detail
Pathogenic 2018-11-28 criteria provided, single submitter germline Detail
Pathogenic 2019-02-12 criteria provided, single submitter cardiomyopathy germline Detail
Pathogenic 2021-09-26 criteria provided, single submitter Myosin storage myopathy,MYH7-related skeletal myopathy,Myopathy, myosin storage, autosomal recessive,Congenital myopathy with fiber type disproportion,hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1S unknown Detail
Pathogenic 2021-09-26 criteria provided, single submitter Myosin storage myopathy,MYH7-related skeletal myopathy,Myopathy, myosin storage, autosomal recessive,Congenital myopathy with fiber type disproportion,hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1S unknown Detail
Pathogenic 2021-09-26 criteria provided, single submitter Myosin storage myopathy,MYH7-related skeletal myopathy,Myopathy, myosin storage, autosomal recessive,Congenital myopathy with fiber type disproportion,hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1S unknown Detail
Pathogenic 2021-09-26 criteria provided, single submitter Myosin storage myopathy,MYH7-related skeletal myopathy,Myopathy, myosin storage, autosomal recessive,Congenital myopathy with fiber type disproportion,hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1S unknown Detail
Pathogenic 2021-09-26 criteria provided, single submitter Myosin storage myopathy,MYH7-related skeletal myopathy,Myopathy, myosin storage, autosomal recessive,Congenital myopathy with fiber type disproportion,hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1S unknown Detail
Pathogenic 2021-09-26 criteria provided, single submitter Myosin storage myopathy,MYH7-related skeletal myopathy,Myopathy, myosin storage, autosomal recessive,Congenital myopathy with fiber type disproportion,hypertrophic cardiomyopathy 1,dilated cardiomyopathy 1S 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
Annotation

Annotations

DescrptionSourceLinks
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) AND Hypertrophic cardiomyopathy 1 ClinVar Detail
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) AND not provided ClinVar Detail
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) AND Cardiovascular phenotype ClinVar Detail
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) AND Cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) AND multiple conditions 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
rs121913632 dbSNP
Genome
hg38
Position
chr14:23,425,760-23,425,760
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser