chr14:23424875:C>G Detail (hg38) (MYH7, LOC126861898)

Information

Genome

Assembly Position
hg19 chr14:23,894,084-23,894,084 View the variant detail on this assembly version.
hg38 chr14:23,424,875-23,424,875

HGVS

Type Transcript Protein
RefSeq NM_000257.3:c.2573G>C NP_000248.2:p.Arg858Pro
Ensemble ENST00000355349.4:c.2573G>C ENST00000355349.4:p.Arg858Pro
ENST00000713768.1:c.2573G>C ENST00000713768.1:p.Arg858Pro
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely 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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2016-06-15 criteria provided, single submitter germline Detail
Likely pathogenic 2021-12-09 criteria provided, single submitter hypertrophic cardiomyopathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Cardiomyopathy, Familial Hypertrophic, 1 (disorder) Mutations profile in Chinese patients with hypertrophic cardiomyopathy. UNIPROT 15563892 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000257.4(MYH7):c.2573G>C (p.Arg858Pro) AND Cardiovascular phenotype ClinVar Detail
NM_000257.4(MYH7):c.2573G>C (p.Arg858Pro) AND Hypertrophic cardiomyopathy ClinVar Detail
Mutations profile in Chinese patients with hypertrophic cardiomyopathy. 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
rs2856897 dbSNP
Genome
hg38
Position
chr14:23,424,875-23,424,875
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser