RGD:13623873 Rat Genome Database

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Variant: RGD:13623873 -  Homo sapiens

RGD ID: 13623873
RS ID: rs748742357
ClinVar ID: CV517847
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DES  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 220,285,595
GRCh38 2 219,420,873
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.11:g.220285595C>T
NP_001918.3:p.Arg315Cys
LRG_380t1:c.943C>T
LRG_380:g.7497C>T
More...
10/23/2017 missense variant uncertain significance 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


Variant Details
Variant Transcripts
Gene Symbol:DES
Accession:NM_001927
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 315
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKGSSSSVTSRVYQVSRTSGGAGGLGSLRASRLGTTRTP
SSYGAGELLDFSLADAVNQEFLTTRTNEKVELQELNDRFANYIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEELR
ELRRQVEVLTNQRARVDVERDNLLDDLQRLKAKLQEEIQLKEEAENNLAAFRADVDAATLARIDLERRIESLNEEIAFLK
KVHEEEIRELQAQLQEQQVQVEMDMSKPDLTAALRDIRAQYETIAAKNISEAEEWYKSKVSDLTQAANKNNDALCQAKQE
MMEYRHQIQSYTCEIDALKGTNDSLMRQMRELEDRFASEASGYQDNIARLEEEIRHLKDEMARHLREYQDLLNVKMALDV
EIATYRKLLEGEESRINLPIQTYSALNFRETSPEQRGSEVHTKKTVMIKTIETRDGEVVSEATQQQHEVL*

Gene Symbol:DES
Accession:NM_001382712
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 315
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKGSSSSVTSRVYQVSRTSGGAGGLGSLRASRLGTTRTP
SSYGAGELLDFSLADAVNQEFLTTRTNEKVELQELNDRFANYIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEELR
ELRRQVEVLTNQRARVDVERDNLLDDLQRLKAKLQEEIQLKEEAENNLAAFRADVDAATLARIDLERRIESLNEEIAFLK
KVHEEEIRELQAQLQEQQVQVEMDMSKPDLTAALRDIRAQYETIAAKNISEAEEWYKSKVSDLTQAANKNNDALCQAKQE
MMEYRHQIQSYTCEIDALKGTNDSLMRQMRELEDRFASEASGYQDNIARLEEEIRHLKDEMARHLREYQDLLNVKMALDV
EIATYRKLLEGEESRINLPIQTYSALNFRETSPEQRGSEVHTKKTVMIKTIETRDGEVLEVGAGD*

Gene Symbol:DES
Accession:NM_001382711
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 315
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKGSSSSVTSRVYQVSRTSGGAGGLGSLRASRLGTTRTP
SSYGAGELLDFSLADAVNQEFLTTRTNEKVELQELNDRFANYIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEELR
ELRRQVEVLTNQRARVDVERDNLLDDLQRLKAKLQEEIQLKEEAENNLAAFRADVDAATLARIDLERRIESLNEEIAFLK
KVHEEEIRELQAQLQEQQVQVEMDMSKPDLTAALRDIRAQYETIAAKNISEAEEWYKSKVSDLTQAANKNNDALCQAKQE
MMEYRHQIQSYTCEIDALKGTMRELEDRFASEASGYQDNIARLEEEIRHLKDEMARHLREYQDLLNVKMALDVEIATYRK
LLEGEESRINLPIQTYSALNFRETSPEQRGSEVHTKKTVMIKTIETRDGEVVSEATQQQHEVL*

Gene Symbol:DES
Accession:NM_001382710
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 315
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKGSSSSVTSRVYQVSRTSGGAGGLGSLRASRLGTTRTP
SSYGAGELLDFSLADAVNQEFLTTRTNEKVELQELNDRFANYIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEELR
ELRRQVEVLTNQRARVDVERDNLLDDLQRLKAKLQEEIQLKEEAENNLAAFRADVDAATLARIDLERRIESLNEEIAFLK
KVHEEEIRELQAQLQEQQVQVEMDMSKPDLTAALRDIRAQYETIAAKNISEAEEWYKSKVSDLTQAANKNNDALCQAKQE
MMEYRHQIQSYTCEIDALKGTDNIARLEEEIRHLKDEMARHLREYQDLLNVKMALDVEIATYRKLLEGEESRINLPIQTY
SALNFRETSPEQRGSEVHTKKTVMIKTIETRDGEVVSEATQQQHEVL*

Gene Symbol:DES
Accession:NM_001382708
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 314
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKGSSSSVTSRVYQVSRTSGGAGGLGSLRASRLGTTRTP
SSYGAGELLDFSLADAVNQEFLTTRTNEKVELQELNDRFANYIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEELR
ELRRQVEVLTNQRARVDVERDNLLDDLQRLKAKLQEEIQLKEEAENNLAAFRDVDAATLARIDLERRIESLNEEIAFLKK
VHEEEIRELQAQLQEQQVQVEMDMSKPDLTAALRDIRAQYETIAAKNISEAEEWYKSKVSDLTQAANKNNDALCQAKQEM
MEYRHQIQSYTCEIDALKGTNDSLMRQMRELEDRFASEASGYQDNIARLEEEIRHLKDEMARHLREYQDLLNVKMALDVE
IATYRKLLEGEESRINLPIQTYSALNFRETSPEQRGSEVHTKKTVMIKTIETRDGEVVSEATQQQHEVL*

Gene Symbol:DES
Accession:NM_001382713
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 225
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKGSSSSVTSRVYQVSRTSGGAGGLGSLRASRLGTTRTP
SSYGAGELLDFSLADAVNQEFLTTRTNEKVELQELNDRFANYIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEELR
ELRRQEQQVQVEMDMSKPDLTAALRDIRAQYETIAAKNISEAEEWYKSKVSDLTQAANKNNDALCQAKQEMMEYRHQIQS
YTCEIDALKGTNDSLMRQMRELEDRFASEASGYQDNIARLEEEIRHLKDEMARHLREYQDLLNVKMALDVEIATYRKLLE
GEESRINLPIQTYSALNFRETSPEQRGSEVHTKKTVMIKTIETRDGEVVSEATQQQHEVL*

Gene Symbol:DES
Accession:NM_001382709
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000651543 CLINVAR
  RCV003144448 CLINVAR
dbSNP (RS) rs748742357 CLINVAR
MedGen C1832370 CLINVAR
  C3661900 CLINVAR
  CN517202 CLINVAR
NCBI Gene DES CLINVAR
OMIM 125660 CLINVAR
  601419 CLINVAR
  615325 CLINVAR
SNOMED CT 770627003 CLINVAR