chr14:23893328:G>A Detail (hg19) (MYH7)

Information

Genome

Assembly Position
hg19 chr14:23,893,328-23,893,328
hg38 chr14:23,424,119-23,424,119 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000257.3:c.2710C>T NP_000248.2:p.Arg904Cys
Ensemble ENST00000713769.1:c.2710C>T ENST00000713769.1:p.Arg904Cys
ENST00000355349.4:c.2710C>T ENST00000355349.4:p.Arg904Cys
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 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 COSM1258462 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2021-09-27 reviewed by expert panel Primary dilated cardiomyopathy germline Detail
Pathogenic 2016-02-18 criteria provided, multiple submitters, no conflicts dilated cardiomyopathy 1S germline unknown Detail
Pathogenic 2024-01-20 criteria provided, single submitter hypertrophic cardiomyopathy germline Detail
Pathogenic 2019-07-24 criteria provided, single submitter hypertrophic cardiomyopathy 1 germline Detail
Pathogenic 2020-07-09 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 CARDIOMYOPATHY, DILATED, 1S NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys) AND Primary dilated cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys) AND Dilated cardiomyopathy 1S ClinVar Detail
NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys) AND Hypertrophic cardiomyopathy 1 ClinVar Detail
NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys) AND Cardiovascular phenotype ClinVar Detail
NA 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
rs727503253 dbSNP
Genome
hg19
Position
chr14:23,893,328-23,893,328
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8654
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)
121392
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)
8.237775141689733E-6
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