chr14:23415021:G>A 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>T NP_000248.2:p.Arg1845Trp
Ensemble ENST00000355349.4:c.5533C>T ENST00000355349.4:p.Arg1845Trp
ENST00000713768.1:c.5533C>T ENST00000713768.1:p.Arg1845Trp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 COSM5635861 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-03-31 criteria provided, single submitter hypertrophic cardiomyopathy germline Detail
Uncertain significance 2022-04-08 criteria provided, single submitter cardiomyopathy germline Detail
Pathogenic 2022-10-26 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2021-10-19 criteria provided, single submitter Myosin storage myopathy germline Detail
Pathogenic 2020-03-24 criteria provided, single submitter hyaline body myopathy germline 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>T (p.Arg1845Trp) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.5533C>T (p.Arg1845Trp) AND Cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.5533C>T (p.Arg1845Trp) AND not provided ClinVar Detail
NM_000257.4(MYH7):c.5533C>T (p.Arg1845Trp) AND Myosin storage myopathy ClinVar Detail
NM_000257.4(MYH7):c.5533C>T (p.Arg1845Trp) AND Hyaline body myopathy 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
A
Genome browser