chr2:220286072:T>C Detail (hg19) (DES)

Information

Genome

Assembly Position
hg19 chr2:220,286,072-220,286,072
hg38 chr2:219,421,350-219,421,350 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001927.3:c.1034T>C NP_001918.3:p.Leu345Pro
Ensemble ENST00000373960.4:c.1034T>C ENST00000373960.4:p.Leu345Pro
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2024-01-01 criteria provided, multiple submitters, no conflicts not provided germline not provided unknown Detail
Pathogenic 2022-10-13 criteria provided, single submitter 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
0.023 myopathy Cytoskeletal derangements in hereditary myopathy with a desmin L345P mutation. BeFree 12410397 Detail
0.023 myopathy We conclude that the L345P desmin missense mutation causes myopathy by interferi... BeFree 10545598 Detail
0.564 MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED We report the first point mutation in desmin cosegregating with an autosomal dom... UNIPROT 10545598 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001927.4(DES):c.1034T>C (p.Leu345Pro) AND not provided ClinVar Detail
NM_001927.4(DES):c.1034T>C (p.Leu345Pro) AND Desmin-related myofibrillar myopathy ClinVar Detail
NA DisGeNET Detail
Cytoskeletal derangements in hereditary myopathy with a desmin L345P mutation. DisGeNET Detail
We conclude that the L345P desmin missense mutation causes myopathy by interfering in a dominant-neg... DisGeNET Detail
We report the first point mutation in desmin cosegregating with an autosomal dominant form of desmin... 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
rs57639980 dbSNP
Genome
hg19
Position
chr2:220,286,072-220,286,072
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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