chr14:23894118:TCT> Detail (hg19) (MYH7, LOC126861898)

Information

Genome

Assembly Position
hg19 chr14:23,894,118-23,894,120
hg38 chr14:23,424,909-23,424,911 

HGVS

Type Transcript Protein
RefSeq NM_000257.3:c.2537_2539delAGA NP_000248.2:p.Lys847del
Ensemble ENST00000713769.1:c.2537_2539delAGA ENST00000713769.1:p.Lys847del
ENST00000355349.4:c.2537_2539delAGA ENST00000355349.4:p.Lys847del
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
Likely pathogenic 2014-09-01 no assertion criteria provided Primary familial hypertrophic cardiomyopathy germline Detail
Likely pathogenic 2021-10-05 reviewed by expert panel hypertrophic cardiomyopathy germline maternal Detail
Likely pathogenic criteria provided, single submitter hypertrophic cardiomyopathy 1 germline Detail
Likely pathogenic 2023-10-16 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2020-07-02 criteria provided, single submitter germline Detail
Pathogenic criteria provided, single submitter dilated cardiomyopathy 1S unknown 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
Annotation

Annotations

DescrptionSourceLinks
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) AND Hypertrophic cardiomyopathy 1 ClinVar Detail
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) AND not provided ClinVar Detail
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) AND Cardiovascular phenotype ClinVar Detail
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) AND Dilated cardiomyopathy 1S ClinVar Detail
NA DisGeNET 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
rs397516155 dbSNP
Genome
hg19
Position
chr14:23,894,118-23,894,120
Variant Type
snv
Reference Allele
TCT
Alternative Allele
-
Genome browser