chr14:23897792:C>T Detail (hg19) (MYH7)

Information

Genome

Assembly Position
hg19 chr14:23,897,792-23,897,792
hg38 chr14:23,428,583-23,428,583 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000257.3:c.1495G>A NP_000248.2:p.Glu499Lys
Ensemble ENST00000355349.4:c.1495G>A ENST00000355349.4:p.Glu499Lys
ENST00000713768.1:c.1495G>A ENST00000713768.1:p.Glu499Lys
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 COSM5893774 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Cardiomyopathy, Familial Hypertrophic, 1 (disorder) The origins of hypertrophic cardiomyopathy-causing mutations in two South Africa... UNIPROT 10521296 Detail
Annotation

Annotations

DescrptionSourceLinks
The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a ... 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
rs3218715 dbSNP
Genome
hg19
Position
chr14:23,897,792-23,897,792
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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