chr14:23431789:C>T Detail (hg38) (MYH7)

Information

Genome

Assembly Position
hg19 chr14:23,900,998-23,900,998 View the variant detail on this assembly version.
hg38 chr14:23,431,789-23,431,789

HGVS

Type Transcript Protein
RefSeq NM_000257.3:c.611G>A NP_000248.2:p.Arg204His
Ensemble ENST00000355349.4:c.611G>A ENST00000355349.4:p.Arg204His
ENST00000713768.1:c.611G>A ENST00000713768.1:p.Arg204His
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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 tgv50140898 TogoVar
COSMIC COSM552656 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic cardiomyopathy, familial hypertrophic germline MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2023-11-02 criteria provided, single submitter not provided germline Detail
Pathogenic Likely pathogenic 2024-01-15 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy germline Detail
Uncertain significance 2020-04-06 criteria provided, single submitter cardiomyopathy germline Detail
Pathogenic Likely pathogenic 2022-09-05 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy 1 germline unknown Detail
Likely pathogenic 2023-08-21 criteria provided, single submitter germline Detail
Pathogenic 2022-09-05 criteria provided, single submitter dilated cardiomyopathy 1S unknown Detail
Pathogenic 2022-09-05 criteria provided, single submitter MYH7-related skeletal myopathy unknown Detail
Pathogenic 2022-09-05 criteria provided, single submitter Myopathy, myosin storage, autosomal recessive unknown Detail
Pathogenic 2022-09-05 criteria provided, single submitter Myosin storage myopathy unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.163 Cardiomyopathies In a small cohort of HCM patients (n=8), we searched for mutations in the two mo... BeFree 23816408 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000257.4(MYH7):c.611G>A (p.Arg204His) AND not provided ClinVar Detail
NM_000257.4(MYH7):c.611G>A (p.Arg204His) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.611G>A (p.Arg204His) AND Cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.611G>A (p.Arg204His) AND Hypertrophic cardiomyopathy 1 ClinVar Detail
NM_000257.4(MYH7):c.611G>A (p.Arg204His) AND Cardiovascular phenotype ClinVar Detail
NM_000257.4(MYH7):c.611G>A (p.Arg204His) AND Dilated cardiomyopathy 1S ClinVar Detail
NM_000257.4(MYH7):c.611G>A (p.Arg204His) AND MYH7-related skeletal myopathy ClinVar Detail
NM_000257.4(MYH7):c.611G>A (p.Arg204His) AND Myopathy, myosin storage, autosomal recessive ClinVar Detail
NM_000257.4(MYH7):c.611G>A (p.Arg204His) AND Myosin storage myopathy ClinVar Detail
In a small cohort of HCM patients (n=8), we searched for mutations in the two most common genes resp... 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
rs397516260 dbSNP
Genome
hg38
Position
chr14:23,431,789-23,431,789
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser