chr14:23405298:G>A Detail (hg38) (MYH6, LOC114827851)

Information

Genome

Assembly Position
hg19 chr14:23,874,507-23,874,507 View the variant detail on this assembly version.
hg38 chr14:23,405,298-23,405,298

HGVS

Type Transcript Protein
RefSeq NM_002471.3:c.427C>T NP_002462.2:p.Arg143Trp
Ensemble ENST00000405093.9:c.427C>T ENST00000405093.9:p.Arg143Trp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 160710 OMIM
HGNC 7576 HGNC
Ensembl ENSG00000197616 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 2023-01-17 criteria provided, single submitter hypertrophic cardiomyopathy 14 germline Detail
Uncertain significance 2022-09-16 criteria provided, single submitter not provided germline Detail
Uncertain significance 2021-08-20 criteria provided, single submitter hypertrophic cardiomyopathy 14,dilated cardiomyopathy 1EE,hypertrophic cardiomyopathy 1,Atrial septal defect 3,Sick sinus syndrome 3, susceptibility to unknown Detail
Uncertain significance 2021-08-20 criteria provided, single submitter hypertrophic cardiomyopathy 14,dilated cardiomyopathy 1EE,hypertrophic cardiomyopathy 1,Atrial septal defect 3,Sick sinus syndrome 3, susceptibility to unknown Detail
Uncertain significance 2021-08-20 criteria provided, single submitter hypertrophic cardiomyopathy 14,dilated cardiomyopathy 1EE,hypertrophic cardiomyopathy 1,Atrial septal defect 3,Sick sinus syndrome 3, susceptibility to unknown Detail
Uncertain significance 2021-08-20 criteria provided, single submitter hypertrophic cardiomyopathy 14,dilated cardiomyopathy 1EE,hypertrophic cardiomyopathy 1,Atrial septal defect 3,Sick sinus syndrome 3, susceptibility to unknown Detail
Uncertain significance 2021-08-20 criteria provided, single submitter hypertrophic cardiomyopathy 14,dilated cardiomyopathy 1EE,hypertrophic cardiomyopathy 1,Atrial septal defect 3,Sick sinus syndrome 3, susceptibility to unknown Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_002471.4(MYH6):c.427C>T (p.Arg143Trp) AND Hypertrophic cardiomyopathy 14 ClinVar Detail
NM_002471.4(MYH6):c.427C>T (p.Arg143Trp) AND not provided ClinVar Detail
NM_002471.4(MYH6):c.427C>T (p.Arg143Trp) AND multiple conditions ClinVar Detail
NM_002471.4(MYH6):c.427C>T (p.Arg143Trp) AND multiple conditions ClinVar Detail
NM_002471.4(MYH6):c.427C>T (p.Arg143Trp) AND multiple conditions ClinVar Detail
NM_002471.4(MYH6):c.427C>T (p.Arg143Trp) AND multiple conditions ClinVar Detail
NM_002471.4(MYH6):c.427C>T (p.Arg143Trp) AND multiple conditions ClinVar 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
rs2277473 dbSNP
Genome
hg38
Position
chr14:23,405,298-23,405,298
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8644
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121398
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.237367996177861E-6
Genome browser