chr14:23896002:A> Detail (hg19) (MYH7)

Information

Genome

Assembly Position
hg19 chr14:23,896,002-23,896,002
hg38 chr14:23,426,793-23,426,793 

HGVS

Type Transcript Protein
RefSeq NM_000257.3:c.2028delT NP_000248.2:p.Asn676LysfsTer8
Ensemble ENST00000713768.1:c.2028delT ENST00000713768.1:p.Asn676LysfsTer8
ENST00000355349.4:c.2028delT ENST00000355349.4:p.Asn676LysfsTer8
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic no assertion criteria provided Familial cardiomyopathy not provided Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Familial cardiomyopathy NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000257.4(MYH7):c.2028del (p.Asn676fs) AND Familial cardiomyopathy 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
rs606231331 dbSNP
Genome
hg19
Position
chr14:23,896,002-23,896,002
Variant Type
snv
Reference Allele
A
Alternative Allele
-
Genome browser