chr2:220286216:A>T Detail (hg19) (DES)

Information

Genome

Assembly Position
hg19 chr2:220,286,216-220,286,216
hg38 chr2:219,421,494-219,421,494 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001927.3:c.1178A>T NP_001918.3:p.Asn393Ile
Ensemble ENST00000373960.4:c.1178A>T ENST00000373960.4:p.Asn393Ile
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
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 1998-08-01 no assertion criteria provided Desmin-related myofibrillar myopathy germline Detail
Uncertain significance 2022-09-27 criteria provided, single submitter 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.1178A>T (p.Asn393Ile) AND not provided ClinVar Detail
NM_001927.4(DES):c.1178A>T (p.Asn393Ile) AND Desmin-related myofibrillar myopathy ClinVar Detail
NM_001927.4(DES):c.1178A>T (p.Asn393Ile) AND Cardiovascular phenotype 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
rs121913001 dbSNP
Genome
hg19
Position
chr2:220,286,216-220,286,216
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Genome browser