chr14:23417616:G>T Detail (hg38) (MYH7)

Information

Genome

Assembly Position
hg19 chr14:23,886,825-23,886,825 View the variant detail on this assembly version.
hg38 chr14:23,417,616-23,417,616

HGVS

Type Transcript Protein
RefSeq NM_000257.3:c.4240C>A NP_000248.2:p.Leu1414Met
Ensemble ENST00000355349.4:c.4240C>A ENST00000355349.4:p.Leu1414Met
ENST00000713768.1:c.4240C>A ENST00000713768.1:p.Leu1414Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
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
Uncertain significance 2023-05-22 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy germline unknown Detail
Uncertain significance 2019-11-27 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.252 Cardiomyopathy, Hypertrophic, Familial NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000257.4(MYH7):c.4240C>A (p.Leu1414Met) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.4240C>A (p.Leu1414Met) AND Cardiovascular phenotype 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
rs201895208 dbSNP
Genome
hg38
Position
chr14:23,417,616-23,417,616
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Genome browser