chr2:220286135:ACA> Detail (hg19) (DES)

Information

Genome

Assembly Position
hg19 chr2:220,286,135-220,286,137
hg38 chr2:219,421,413-219,421,415 

HGVS

Type Transcript Protein
RefSeq NM_001927.3:c.1097_1099delACA NP_001918.3:p.Asn366del
Ensemble ENST00000373960.4:c.1097_1099delACA ENST00000373960.4:p.Asn366del
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.564 MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
rs58687088 dbSNP
Genome
hg19
Position
chr2:220,286,135-220,286,137
Variant Type
snv
Reference Allele
ACA
Alternative Allele
-
Genome browser