chr14:23424798:TCT> Detail (hg38) (MYH7)

Information

Genome

Assembly Position
hg19 chr14:23,894,007-23,894,009 
hg38 chr14:23,424,798-23,424,800

HGVS

Type Transcript Protein
RefSeq NM_000257.3:c.2648_2650delAGA NP_000248.2:p.Lys884del
Ensemble ENST00000355349.4:c.2648_2650delAGA ENST00000355349.4:p.Lys884del
ENST00000713768.1:c.2648_2650delAGA ENST00000713768.1:p.Lys884del
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.252 Cardiomyopathy, Hypertrophic, Familial NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
rs193922387 dbSNP
Genome
hg38
Position
chr14:23,424,798-23,424,800
Variant Type
snv
Reference Allele
TCT
Alternative Allele
-
Genome browser