RGD:14394107 Rat Genome Database

Variant: RGD:14394107 - Homo sapiens

RGD ID:

14394107

RS ID:

rs1400593451

ClinVar ID:

CV609471

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

DES

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	2	220,283,549
GRCh38	2	219,418,827

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001927.4:c.365A>G LRG_380t1:c.365A>G LRG_380:g.5451A>G NG_008043.1:g.5451A>G More...	01/03/2018	missense variant	likely pathogenic\|uncertain significance	Arrhythmogenic right ventricular dysplasia; Cardiomyopathies; Cardiomyopathy, ARVC; Desmin related myopathy (former name); Desmin storage myopathy (former name); DESMIN-RELATED MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY; Desminopathy; Myofibrillar myopathy 1; MYOFIBRILLAR MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY; none provided

Disease Annotations Click to see Annotation Detail View

arrhythmogenic right ventricular cardiomyopathy (IAGP)

cardiomyopathy (IAGP)

myofibrillar myopathy 1 (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Cardiomyopathy (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	DES
Accession:	NM_001382713
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	122

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKGSSSSVTSRVYQVSRTSGGAGGLGSLRASRLGTTRTP SSYGAGELLDFSLADAVNQEFLTTRTNEKVELQELNDRFANCIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEELR ELRRQEQQVQVEMDMSKPDLTAALRDIRAQYETIAAKNISEAEEWYKSKVSDLTQAANKNNDALRQAKQEMMEYRHQIQS YTCEIDALKGTNDSLMRQMRELEDRFASEASGYQDNIARLEEEIRHLKDEMARHLREYQDLLNVKMALDVEIATYRKLLE GEESRINLPIQTYSALNFRETSPEQRGSEVHTKKTVMIKTIETRDGEVVSEATQQQHEVL*

Gene Symbol:	DES
Accession:	NM_001927
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	122

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKGSSSSVTSRVYQVSRTSGGAGGLGSLRASRLGTTRTP SSYGAGELLDFSLADAVNQEFLTTRTNEKVELQELNDRFANCIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEELR ELRRQVEVLTNQRARVDVERDNLLDDLQRLKAKLQEEIQLKEEAENNLAAFRADVDAATLARIDLERRIESLNEEIAFLK KVHEEEIRELQAQLQEQQVQVEMDMSKPDLTAALRDIRAQYETIAAKNISEAEEWYKSKVSDLTQAANKNNDALRQAKQE MMEYRHQIQSYTCEIDALKGTNDSLMRQMRELEDRFASEASGYQDNIARLEEEIRHLKDEMARHLREYQDLLNVKMALDV EIATYRKLLEGEESRINLPIQTYSALNFRETSPEQRGSEVHTKKTVMIKTIETRDGEVVSEATQQQHEVL*

Gene Symbol:	DES
Accession:	NM_001382709
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	122

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKGSSSSVTSRVYQVSRTSGGAGGLGSLRASRLGTTRTP SSYGAGELLDFSLADAVNQEFLTTRTNEKVELQELNDRFANCIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEELR ELRRQVEVLTNQRARVDVERDNLLDDLQRLKAKLQEEIQLKEEAENNLAAFRADVDAATLARIDLERRIESLNEEIAFLK KVHEEDLLNVKMALDVEIATYRKLLEGEESRINLPIQTYSALNFRETSPEQRGSEVHTKKTVMIKTIETRDGEVVSEATQ QQHEVL*

Gene Symbol:	DES
Accession:	NM_001382708
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	122

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKGSSSSVTSRVYQVSRTSGGAGGLGSLRASRLGTTRTP SSYGAGELLDFSLADAVNQEFLTTRTNEKVELQELNDRFANCIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEELR ELRRQVEVLTNQRARVDVERDNLLDDLQRLKAKLQEEIQLKEEAENNLAAFRDVDAATLARIDLERRIESLNEEIAFLKK VHEEEIRELQAQLQEQQVQVEMDMSKPDLTAALRDIRAQYETIAAKNISEAEEWYKSKVSDLTQAANKNNDALRQAKQEM MEYRHQIQSYTCEIDALKGTNDSLMRQMRELEDRFASEASGYQDNIARLEEEIRHLKDEMARHLREYQDLLNVKMALDVE IATYRKLLEGEESRINLPIQTYSALNFRETSPEQRGSEVHTKKTVMIKTIETRDGEVVSEATQQQHEVL*

Gene Symbol:	DES
Accession:	NM_001382710
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	122

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKGSSSSVTSRVYQVSRTSGGAGGLGSLRASRLGTTRTP SSYGAGELLDFSLADAVNQEFLTTRTNEKVELQELNDRFANCIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEELR ELRRQVEVLTNQRARVDVERDNLLDDLQRLKAKLQEEIQLKEEAENNLAAFRADVDAATLARIDLERRIESLNEEIAFLK KVHEEEIRELQAQLQEQQVQVEMDMSKPDLTAALRDIRAQYETIAAKNISEAEEWYKSKVSDLTQAANKNNDALRQAKQE MMEYRHQIQSYTCEIDALKGTDNIARLEEEIRHLKDEMARHLREYQDLLNVKMALDVEIATYRKLLEGEESRINLPIQTY SALNFRETSPEQRGSEVHTKKTVMIKTIETRDGEVVSEATQQQHEVL*

Gene Symbol:	DES
Accession:	NM_001382712
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	122

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKGSSSSVTSRVYQVSRTSGGAGGLGSLRASRLGTTRTP SSYGAGELLDFSLADAVNQEFLTTRTNEKVELQELNDRFANCIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEELR ELRRQVEVLTNQRARVDVERDNLLDDLQRLKAKLQEEIQLKEEAENNLAAFRADVDAATLARIDLERRIESLNEEIAFLK KVHEEEIRELQAQLQEQQVQVEMDMSKPDLTAALRDIRAQYETIAAKNISEAEEWYKSKVSDLTQAANKNNDALRQAKQE MMEYRHQIQSYTCEIDALKGTNDSLMRQMRELEDRFASEASGYQDNIARLEEEIRHLKDEMARHLREYQDLLNVKMALDV EIATYRKLLEGEESRINLPIQTYSALNFRETSPEQRGSEVHTKKTVMIKTIETRDGEVLEVGAGD*

Gene Symbol:	DES
Accession:	NM_001382711
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	122

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKGSSSSVTSRVYQVSRTSGGAGGLGSLRASRLGTTRTP SSYGAGELLDFSLADAVNQEFLTTRTNEKVELQELNDRFANCIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEELR ELRRQVEVLTNQRARVDVERDNLLDDLQRLKAKLQEEIQLKEEAENNLAAFRADVDAATLARIDLERRIESLNEEIAFLK KVHEEEIRELQAQLQEQQVQVEMDMSKPDLTAALRDIRAQYETIAAKNISEAEEWYKSKVSDLTQAANKNNDALRQAKQE MMEYRHQIQSYTCEIDALKGTMRELEDRFASEASGYQDNIARLEEEIRHLKDEMARHLREYQDLLNVKMALDVEIATYRK LLEGEESRINLPIQTYSALNFRETSPEQRGSEVHTKKTVMIKTIETRDGEVVSEATQQQHEVL*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868	PMID:27532257	PMID:28492532	PMID:31718026

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000757150	CLINVAR
	RCV000852535	CLINVAR
	RCV001171066	CLINVAR
	RCV001855888	CLINVAR
dbSNP (RS)	rs1400593451	CLINVAR
MedGen	C0349788	CLINVAR
	C0878544	CLINVAR
	C1832370	CLINVAR
	C3661900	CLINVAR
NCBI Gene	DES	CLINVAR
OMIM	125660	CLINVAR
	601419	CLINVAR
	615325	CLINVAR
SNOMED CT	281170005	CLINVAR
	770627003	CLINVAR
	85898001	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Variant: RGD:14394107 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:14394107 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar