chr14:23893251:CTC> Detail (hg19) (MYH7)

Information

Genome

Assembly Position
hg19 chr14:23,893,251-23,893,253
hg38 chr14:23,424,042-23,424,044 

HGVS

Type Transcript Protein
RefSeq NM_000257.3:c.2785_2787delGAG NP_000248.2:p.Glu931del
Ensemble ENST00000713769.1:c.2785_2787delGAG ENST00000713769.1:p.Glu931del
ENST00000355349.4:c.2785_2787delGAG ENST00000355349.4:p.Glu931del
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
rs397516172 dbSNP
Genome
hg19
Position
chr14:23,893,251-23,893,253
Variant Type
snv
Reference Allele
CTC
Alternative Allele
-
Genome browser