chr14:23415021:G>T Detail (hg38) (MYH7)

Information

Genome

Assembly Position
hg19 chr14:23,884,230-23,884,230 View the variant detail on this assembly version.
hg38 chr14:23,415,021-23,415,021

HGVS

Type Transcript Protein
RefSeq NM_000257.3:c.5533C>A NP_000248.2:p.Arg1845=
Ensemble ENST00000355349.4:c.5533C>A ENST00000355349.4:p.Arg1845=
ENST00000713768.1:c.5533C>A ENST00000713768.1:p.Arg1845=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Likely benign
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 benign 2023-03-08 criteria provided, single submitter hypertrophic cardiomyopathy germline Detail
Likely benign 2021-07-02 criteria provided, single submitter hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy,Congenital myopathy with fiber type disproportion,dilated cardiomyopathy 1S,MYH7-related skeletal myopathy unknown Detail
Likely benign 2021-07-02 criteria provided, single submitter hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy,Congenital myopathy with fiber type disproportion,dilated cardiomyopathy 1S,MYH7-related skeletal myopathy unknown Detail
Likely benign 2021-07-02 criteria provided, single submitter hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy,Congenital myopathy with fiber type disproportion,dilated cardiomyopathy 1S,MYH7-related skeletal myopathy unknown Detail
Likely benign 2021-07-02 criteria provided, single submitter hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy,Congenital myopathy with fiber type disproportion,dilated cardiomyopathy 1S,MYH7-related skeletal myopathy unknown Detail
Likely benign 2021-07-02 criteria provided, single submitter hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy,Congenital myopathy with fiber type disproportion,dilated cardiomyopathy 1S,MYH7-related skeletal myopathy unknown Detail
Likely benign 2021-07-02 criteria provided, single submitter hypertrophic cardiomyopathy 1,Myopathy, myosin storage, autosomal recessive,Myosin storage myopathy,Congenital myopathy with fiber type disproportion,dilated cardiomyopathy 1S,MYH7-related skeletal myopathy unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.362 MYOPATHY, MYOSIN STORAGE (disorder) NA CLINVAR Detail
<0.001 Congenital myopathy (disorder) A heterozygous mutation, Arg1845Trp, in the distal rod region of slow myosin (ty... BeFree 15605950 Detail
0.360 X-linked Emery-Dreifuss muscular dystrophy Myosin storage myopathy associated with a heterozygous missense mutation in MYH7... UNIPROT 14520662 Detail
0.362 MYOPATHY, MYOSIN STORAGE (disorder) Myosin storage myopathy associated with a heterozygous missense mutation in MYH7... UNIPROT 14520662 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000257.4(MYH7):c.5533C>A (p.Arg1845=) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.5533C>A (p.Arg1845=) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.5533C>A (p.Arg1845=) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.5533C>A (p.Arg1845=) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.5533C>A (p.Arg1845=) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.5533C>A (p.Arg1845=) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.5533C>A (p.Arg1845=) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
A heterozygous mutation, Arg1845Trp, in the distal rod region of slow myosin (type I, MYH7) is assoc... DisGeNET Detail
Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. DisGeNET Detail
Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. 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
rs28933098 dbSNP
Genome
hg38
Position
chr14:23,415,021-23,415,021
Variant Type
snv
Reference Allele
G
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8616
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121052
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.2609126656313E-6
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