chr14:23899016:C>T Detail (hg19) (MYH7)

Information

Genome

Assembly Position
hg19 chr14:23,899,016-23,899,016
hg38 chr14:23,429,807-23,429,807 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000257.3:c.1106G>A NP_000248.2:p.Arg369Gln
Ensemble ENST00000355349.4:c.1106G>A ENST00000355349.4:p.Arg369Gln
ENST00000713768.1:c.1106G>A ENST00000713768.1:p.Arg369Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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 2014-11-24 criteria provided, single submitter left ventricular noncompaction,Primary dilated cardiomyopathy germline Detail
Pathogenic 2014-11-24 criteria provided, single submitter left ventricular noncompaction,Primary dilated cardiomyopathy germline Detail
Pathogenic 2022-03-08 criteria provided, single submitter not provided germline Detail
Likely pathogenic 2021-12-22 reviewed by expert panel Primary dilated cardiomyopathy germline Detail
Likely pathogenic 2023-04-11 criteria provided, single submitter dilated cardiomyopathy 1S germline maternal Detail
Pathogenic 2023-12-23 criteria provided, single submitter hypertrophic cardiomyopathy germline Detail
Pathogenic 2021-02-11 criteria provided, multiple submitters, no conflicts germline Detail
Likely pathogenic 2019-11-05 criteria provided, single submitter cardiomyopathy germline Detail
Pathogenic 2024-04-04 criteria provided, multiple submitters, no conflicts Myosin storage myopathy germline unknown Detail
Pathogenic criteria provided, single submitter MYH7-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 CARDIOMYOPATHY, DILATED, 1S NA CLINVAR Detail
0.163 Cardiomyopathies NA CLINVAR Detail
0.003 Heart failure A second pediatric patient presented with heart failure and was found to carry a... BeFree 20031619 Detail
<0.001 congestive heart failure A second pediatric patient presented with heart failure and was found to carry a... BeFree 20031619 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) AND multiple conditions ClinVar Detail
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) AND not provided ClinVar Detail
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) AND Primary dilated cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) AND Dilated cardiomyopathy 1S ClinVar Detail
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) AND Cardiovascular phenotype ClinVar Detail
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) AND Cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) AND Myosin storage myopathy ClinVar Detail
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) AND MYH7-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
A second pediatric patient presented with heart failure and was found to carry a de novo MYH7 R369Q ... DisGeNET Detail
A second pediatric patient presented with heart failure and was found to carry a de novo MYH7 R369Q ... 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
rs397516089 dbSNP
Genome
hg19
Position
chr14:23,899,016-23,899,016
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser