chr14:23425970:C>T Detail (hg38) (MYH7)

Information

Genome

Assembly Position
hg19 chr14:23,895,179-23,895,179 View the variant detail on this assembly version.
hg38 chr14:23,425,970-23,425,970

HGVS

Type Transcript Protein
RefSeq NM_000257.3:c.2156G>A NP_000248.2:p.Arg719Gln
Ensemble ENST00000355349.4:c.2156G>A ENST00000355349.4:p.Arg719Gln
ENST00000713768.1:c.2156G>A ENST00000713768.1:p.Arg719Gln
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic cardiomyopathy, familial hypertrophic germline MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2022-09-01 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy 1 germline Detail
Pathogenic 2022-05-06 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2024-01-03 criteria provided, single submitter germline Detail
Pathogenic 2016-12-15 reviewed by expert panel hypertrophic cardiomyopathy germline Detail
Pathogenic 2022-09-07 criteria provided, single submitter cardiomyopathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Cardiomyopathy, Familial Hypertrophic, 1 (disorder) NA CLINVAR Detail
0.252 Cardiomyopathy, Hypertrophic, Familial NA CLINVAR Detail
0.054 hypertrophic cardiomyopathy Genotype-phenotype correlative studies have implicated 8 particular mutations th... BeFree 12473556 Detail
0.156 hypertrophic cardiomyopathy Genotype-phenotype correlative studies have implicated 8 particular mutations th... BeFree 12473556 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) AND Hypertrophic cardiomyopathy 1 ClinVar Detail
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) AND not provided ClinVar Detail
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) AND Cardiovascular phenotype ClinVar Detail
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) AND Cardiomyopathy ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophi... DisGeNET Detail
Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophi... 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
rs121913641 dbSNP
Genome
hg38
Position
chr14:23,425,970-23,425,970
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser