chr2:219421470:T>C Detail (hg38) (DES)

Information

Genome

Assembly Position
hg19 chr2:220,286,192-220,286,192 View the variant detail on this assembly version.
hg38 chr2:219,421,470-219,421,470

HGVS

Type Transcript Protein
RefSeq NM_001927.3:c.1154T>C NP_001918.3:p.Leu385Pro
Ensemble ENST00000373960.4:c.1154T>C ENST00000373960.4:p.Leu385Pro
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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 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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic myofibrillar myopathy germline MGS000082
(TMGS000165) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Mutation View
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided no assertion provided not provided not provided Detail
Pathogenic 2000-10-10 no assertion criteria provided Desmin-related myofibrillar myopathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.564 MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED NA CLINVAR Detail
0.564 MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED A novel de novo mutation in the desmin gene causes desmin myopathy with toxic ag... UNIPROT 11061256 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001927.4(DES):c.1154T>C (p.Leu385Pro) AND not provided ClinVar Detail
NM_001927.4(DES):c.1154T>C (p.Leu385Pro) AND Desmin-related myofibrillar myopathy ClinVar Detail
NA DisGeNET Detail
A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates. 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
rs57955682 dbSNP
Genome
hg38
Position
chr2:219,421,470-219,421,470
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser