chr2:220283222:C>T Detail (hg19) (DES)

Information

Genome

Assembly Position
hg19 chr2:220,283,222-220,283,222
hg38 chr2:219,418,500-219,418,500 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001927.3:c.38C>T NP_001918.3:p.Ser13Phe
Ensemble ENST00000373960.4:c.38C>T ENST00000373960.4:p.Ser13Phe
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
Pathogenic 2011-09-07 criteria provided, single submitter Primary dilated cardiomyopathy germline Detail
Pathogenic 2017-03-02 criteria provided, single submitter not provided germline not provided Detail
Pathogenic 2022-03-16 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
0.440 CARDIOMYOPATHY, DILATED, 1I NA CLINVAR Detail
0.023 myopathy Characterization of a novel S13F desmin mutation associated with desmin myopathy... BeFree 18061454 Detail
<0.001 Heart block Characterization of a novel S13F desmin mutation associated with desmin myopathy... BeFree 18061454 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001927.4(DES):c.38C>T (p.Ser13Phe) AND Primary dilated cardiomyopathy ClinVar Detail
NM_001927.4(DES):c.38C>T (p.Ser13Phe) AND not provided ClinVar Detail
NM_001927.4(DES):c.38C>T (p.Ser13Phe) AND Desmin-related myofibrillar myopathy ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in ... DisGeNET Detail
Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in ... 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
rs62636495 dbSNP
Genome
hg19
Position
chr2:220,283,222-220,283,222
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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