chr2:220285069:G>A Detail (hg19) (DES)

Information

Genome

Assembly Position
hg19 chr2:220,285,069-220,285,069
hg38 chr2:219,420,347-219,420,347 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001927.3:c.735+1G>A
Ensemble ENST00000373960.4:c.735+1G>A
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic myofibrillar myopathy germline MGS000074
(TMGS000150) 		Kenjiro Kosaki
Nishino Ichizo		 Keio University
National Center of Neurology and Psychiatry
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2016-06-23 criteria provided, single submitter not provided germline Detail
Pathogenic Likely pathogenic 2019-05-20 criteria provided, multiple submitters, no conflicts 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
Annotation

Annotations

DescrptionSourceLinks
NM_001927.4(DES):c.735+1G>A AND not provided ClinVar Detail
NM_001927.4(DES):c.735+1G>A AND Desmin-related myofibrillar myopathy ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs397516698 dbSNP
Genome
hg19
Position
chr2:220,285,069-220,285,069
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser