MYH7 p.Met515Thr (p.M515T) Detail

Information

Genome

Assembly Position
hg19 chr14:23,897,743-23,897,743
hg38  

HGVS

Type Genome Transcript Protein
NC_000014.8:g.23897743A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
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
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2012-12-04 criteria provided, single submitter dilated cardiomyopathy 1S,Scapuloperoneal myopathy, MYH7-related,Myosin storage myopathy,Familial hypertrophic cardiomyopathy 1,Myopathy, distal, 1 unknown Detail
Likely pathogenic 2012-12-04 criteria provided, single submitter dilated cardiomyopathy 1S,Scapuloperoneal myopathy, MYH7-related,Myosin storage myopathy,Familial hypertrophic cardiomyopathy 1,Myopathy, distal, 1 unknown Detail
Likely pathogenic 2012-12-04 criteria provided, single submitter dilated cardiomyopathy 1S,Scapuloperoneal myopathy, MYH7-related,Myosin storage myopathy,Familial hypertrophic cardiomyopathy 1,Myopathy, distal, 1 unknown Detail
Likely pathogenic 2012-12-04 criteria provided, single submitter dilated cardiomyopathy 1S,Scapuloperoneal myopathy, MYH7-related,Myosin storage myopathy,Familial hypertrophic cardiomyopathy 1,Myopathy, distal, 1 unknown Detail
Likely pathogenic 2012-12-04 criteria provided, single submitter dilated cardiomyopathy 1S,Scapuloperoneal myopathy, MYH7-related,Myosin storage myopathy,Familial hypertrophic cardiomyopathy 1,Myopathy, distal, 1 unknown Detail
CiVIC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000257.3(MYH7):c.1544T>C (p.Met515Thr) AND multiple conditions ClinVar Detail
NM_000257.3(MYH7):c.1544T>C (p.Met515Thr) AND multiple conditions ClinVar Detail
NM_000257.3(MYH7):c.1544T>C (p.Met515Thr) AND multiple conditions ClinVar Detail
NM_000257.3(MYH7):c.1544T>C (p.Met515Thr) AND multiple conditions ClinVar Detail
NM_000257.3(MYH7):c.1544T>C (p.Met515Thr) AND multiple conditions ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links
MYH7 ENST00000355349.3 15 chr14 23,897,709 23,897,879 CDS M515T 1,544 (2) Detail Search Clinical Trials
MYH7 ENST00000355349.3 15 chr14 23,897,709 23,897,879 exon Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
MYH7 ENST00000355349.3 chr14 23,881,947 23,904,927 Detail
Gene
MYH7
Genome
hg19
Position
chr14:23,897,743-23,897,743
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser