chr2:219423817:C>T Detail (hg38) (DES)

Information

Genome

Assembly Position
hg19 chr2:220,288,539-220,288,539 View the variant detail on this assembly version.
hg38 chr2:219,423,817-219,423,817

HGVS

Type Transcript Protein
RefSeq NM_001927.3:c.1285C>T NP_001918.3:p.Arg429Ter
Ensemble ENST00000373960.4:c.1285C>T ENST00000373960.4:p.Arg429Ter
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 Pathogenic Likely pathogenic
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 tgv314926756 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2013-06-12 criteria provided, single submitter Primary dilated cardiomyopathy,Desmin-related myofibrillar myopathy,neuromuscular disease germline Detail
Likely pathogenic 2013-06-12 criteria provided, single submitter Primary dilated cardiomyopathy,Desmin-related myofibrillar myopathy,neuromuscular disease germline Detail
Likely pathogenic 2013-06-12 criteria provided, single submitter Primary dilated cardiomyopathy,Desmin-related myofibrillar myopathy,neuromuscular disease germline Detail
Pathogenic 2023-06-30 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2022-01-01 criteria provided, single submitter Desmin-related myofibrillar myopathy germline Detail
Pathogenic 2022-11-21 criteria provided, single submitter Primary familial dilated cardiomyopathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.564 MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001927.4(DES):c.1285C>T (p.Arg429Ter) AND multiple conditions ClinVar Detail
NM_001927.4(DES):c.1285C>T (p.Arg429Ter) AND multiple conditions ClinVar Detail
NM_001927.4(DES):c.1285C>T (p.Arg429Ter) AND multiple conditions ClinVar Detail
NM_001927.4(DES):c.1285C>T (p.Arg429Ter) AND not provided ClinVar Detail
NM_001927.4(DES):c.1285C>T (p.Arg429Ter) AND Desmin-related myofibrillar myopathy ClinVar Detail
NM_001927.4(DES):c.1285C>T (p.Arg429Ter) AND Primary familial dilated cardiomyopathy ClinVar Detail
NA 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
rs150974575 dbSNP
Genome
hg38
Position
chr2:219,423,817-219,423,817
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8650
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1560693641618497E-4
Chromosome Counts in All Race (ExAC)
121380
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.647717910693689E-5
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