chr2:219425727:C>G Detail (hg38) (DES)

Information

Genome

Assembly Position
hg19 chr2:220,290,449-220,290,449 View the variant detail on this assembly version.
hg38 chr2:219,425,727-219,425,727

HGVS

Type Transcript Protein
RefSeq NM_001927.3:c.1353C>G NP_001918.3:p.Ile451Met
Ensemble ENST00000373960.4:c.1353C>G ENST00000373960.4:p.Ile451Met
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 125660 OMIM
HGNC 2770 HGNC
Ensembl ENSG00000175084 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 2017-11-28 criteria provided, single submitter dilated cardiomyopathy 1I germline Detail
Uncertain significance 2023-10-05 criteria provided, multiple submitters, no conflicts not provided germline not provided Detail
Uncertain significance 2024-01-28 criteria provided, multiple submitters, no conflicts Desmin-related myofibrillar myopathy germline Detail
Uncertain significance 2022-05-02 criteria provided, single submitter not specified germline Detail
Uncertain significance 2020-12-30 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 CARDIOMYOPATHY, DILATED, 1I NA CLINVAR Detail
0.440 CARDIOMYOPATHY, DILATED, 1I Desmin mutation responsible for idiopathic dilated cardiomyopathy. UNIPROT 10430757 Detail
0.564 MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED Desmin mutation responsible for idiopathic dilated cardiomyopathy. UNIPROT 10430757 Detail
0.137 Cardiomyopathy, Dilated The missense mutation (Ile451Met) of the desmin gene can be the genetic cause of... BeFree 11728149 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001927.4(DES):c.1353C>G (p.Ile451Met) AND Dilated cardiomyopathy 1I ClinVar Detail
NM_001927.4(DES):c.1353C>G (p.Ile451Met) AND not provided ClinVar Detail
NM_001927.4(DES):c.1353C>G (p.Ile451Met) AND Desmin-related myofibrillar myopathy ClinVar Detail
NM_001927.4(DES):c.1353C>G (p.Ile451Met) AND not specified ClinVar Detail
NM_001927.4(DES):c.1353C>G (p.Ile451Met) AND Cardiovascular phenotype ClinVar Detail
NA DisGeNET Detail
Desmin mutation responsible for idiopathic dilated cardiomyopathy. DisGeNET Detail
Desmin mutation responsible for idiopathic dilated cardiomyopathy. DisGeNET Detail
The missense mutation (Ile451Met) of the desmin gene can be the genetic cause of dilated cardiomyopa... 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
rs121913002 dbSNP
Genome
hg38
Position
chr2:219,425,727-219,425,727
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
3920
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)
56434
Allele Counts in All Race (ExAC)
7
Heterozygous Counts in All Race (ExAC)
7
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.2403870007442322E-4
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