chr2:219418809:A>G Detail (hg38) (DES)

Information

Genome

Assembly Position
hg19 chr2:220,283,531-220,283,531 View the variant detail on this assembly version.
hg38 chr2:219,418,809-219,418,809

HGVS

Type Transcript Protein
RefSeq NM_001927.3:c.347A>G NP_001918.3:p.Asn116Ser
Ensemble ENST00000373960.4:c.347A>G ENST00000373960.4:p.Asn116Ser
Summary

MGeND

Clinical significance
Variant entry
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 tgv314926548 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 Likely pathogenic 2022-11-29 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
0.001 Arrhythmogenic Right Ventricular Dysplasia De novo desmin-mutation N116S is associated with arrhythmogenic right ventricula... BeFree 20829228 Detail
0.001 Heart failure In addition, we screened for desmin mutations and found a novel desmin-mutation ... BeFree 20829228 Detail
0.564 MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED De novo desmin-mutation N116S is associated with arrhythmogenic right ventricula... UNIPROT 20829228 Detail
0.002 congestive heart failure In addition, we screened for desmin mutations and found a novel desmin-mutation ... BeFree 20829228 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001927.4(DES):c.347A>G (p.Asn116Ser) AND not provided ClinVar Detail
NM_001927.4(DES):c.347A>G (p.Asn116Ser) AND Desmin-related myofibrillar myopathy ClinVar Detail
NA DisGeNET Detail
De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. DisGeNET Detail
In addition, we screened for desmin mutations and found a novel desmin-mutation p.N116S in a patient... DisGeNET Detail
De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. DisGeNET Detail
In addition, we screened for desmin mutations and found a novel desmin-mutation p.N116S in a patient... 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
rs267607499 dbSNP
Genome
hg38
Position
chr2:219,418,809-219,418,809
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser