chr14:23900656:C>T Detail (hg19) (MYH7)

Information

Genome

Assembly Position
hg19 chr14:23,900,656-23,900,656
hg38 chr14:23,431,447-23,431,447 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000257.3:c.767G>A NP_000248.2:p.Gly256Glu
Ensemble ENST00000355349.4:c.767G>A ENST00000355349.4:p.Gly256Glu
ENST00000713769.1:c.767G>A ENST00000713769.1:p.Gly256Glu
Summary

MGeND

Clinical significance
Variant entry
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 COSM3495248 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1993-05-01 no assertion criteria provided hypertrophic cardiomyopathy 1 germline Detail
Pathogenic 2020-08-07 criteria provided, single submitter not provided germline Detail
Pathogenic 2023-12-30 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy germline Detail
Pathogenic 2022-10-05 criteria provided, single submitter 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.767G>A (p.Gly256Glu) AND Hypertrophic cardiomyopathy 1 ClinVar Detail
NM_000257.4(MYH7):c.767G>A (p.Gly256Glu) AND not provided ClinVar Detail
NM_000257.4(MYH7):c.767G>A (p.Gly256Glu) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_000257.4(MYH7):c.767G>A (p.Gly256Glu) AND Cardiovascular phenotype 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
rs121913633 dbSNP
Genome
hg19
Position
chr14:23,900,656-23,900,656
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser