chr2:220283705:CGCGCGTCGACGTCGAGCGCG> Detail (hg19) (DES)

Information

Genome

Assembly Position
hg19 chr2:220,283,705-220,283,725
hg38 chr2:219,418,983-219,419,003 

HGVS

Type Transcript Protein
RefSeq NM_001927.3:c.521_541delCGCGCGTCGACGTCGAGCGCG NP_001918.3:p.Ala174_Arg180del
Ensemble ENST00000373960.4:c.521_541delCGCGCGTCGACGTCGAGCGCG ENST00000373960.4:p.Ala174_Arg180del
Summary

MGeND

Clinical significance
Variant entry
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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided no assertion provided not provided not provided Detail
Pathogenic 2009-06-01 no assertion criteria provided Desmin-related myofibrillar myopathy germline unknown 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.521_541del (p.Ala174_Arg180del) AND not provided ClinVar Detail
NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del) AND Desmin-related myofibrillar myopathy 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
rs60538473 dbSNP
Genome
hg19
Position
chr2:220,283,705-220,283,725
Variant Type
snv
Reference Allele
CGCGCGTCGACGTCGAGCGCG
Alternative Allele
-
Genome browser