chr14:23425345:C>T Detail (hg38) (MYH7, LOC126861898)

Information

Genome

Assembly Position
hg19 chr14:23,894,554-23,894,554 View the variant detail on this assembly version.
hg38 chr14:23,425,345-23,425,345

HGVS

Type Transcript Protein
RefSeq NM_000257.3:c.2360G>A NP_000248.2:p.Arg787His
Ensemble ENST00000355349.4:c.2360G>A ENST00000355349.4:p.Arg787His
ENST00000713768.1:c.2360G>A ENST00000713768.1:p.Arg787His
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 tgv386543310 TogoVar
COSMIC COSM3706200 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2019-07-15 criteria provided, multiple submitters, no conflicts not specified germline Detail
Uncertain significance 2017-06-27 criteria provided, single submitter Primary familial hypertrophic cardiomyopathy germline Detail
Likely benign 2022-06-09 criteria provided, single submitter germline Detail
Likely benign 2021-04-27 reviewed by expert panel hypertrophic cardiomyopathy germline Detail
Likely benign 2017-04-27 criteria provided, single submitter dilated cardiomyopathy 1S germline Detail
Likely benign 2017-04-27 criteria provided, single submitter MYH7-related skeletal myopathy germline Detail
Likely benign 2016-06-14 criteria provided, single submitter Left ventricular noncompaction cardiomyopathy germline Detail
Benign Likely benign 2023-08-22 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy 1 germline Detail
Likely benign 2020-10-19 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
Likely benign 2022-12-21 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely benign 2017-04-27 criteria provided, single submitter Myosin storage myopathy germline 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
0.360 Cardiomyopathy, Familial Hypertrophic, 1 (disorder) Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutation... UNIPROT 12707239 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) AND not specified ClinVar Detail
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) AND Cardiovascular phenotype ClinVar Detail
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) AND Dilated cardiomyopathy 1S ClinVar Detail
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) AND MYH7-related skeletal myopathy ClinVar Detail
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) AND Left ventricular noncompaction cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) AND Hypertrophic cardiomyopathy 1 ClinVar Detail
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) AND Cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) AND not provided ClinVar Detail
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) AND Myosin storage myopathy ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications ... 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
rs376754645 dbSNP
Genome
hg38
Position
chr14:23,425,345-23,425,345
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.3110700254217703E-4
Chromosome Counts in All Race (ExAC)
121382
Allele Counts in All Race (ExAC)
27
Heterozygous Counts in All Race (ExAC)
27
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.2243825278871662E-4
Genome browser