RGD:8607132 Rat Genome Database

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Variant: RGD:8607132 -  Homo sapiens

RGD ID: 8607132
RS ID: rs191143292
ClinVar ID: CV53486
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DSG2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 18 29,101,156
GRCh38 18 31,521,193
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_007072.3:g.27952T>G
NC_000018.10:g.31521193T>G
NC_000018.9:g.29101156T>G
NP_001934.2:p.Val158Gly
More... 		12/31/2019 missense|missense variant benign|likely benign|conflicting interpretations of pathogenicity infancy|neonatal 1-9 / 100 000 AllHighlyPenetrant; Arrhythmogenic right ventricular cardiomyopathy, type 10; Arrhythmogenic right ventricular dysplasia; Arrhythmogenic right ventricular dysplasia, familial 1; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; Arrhythmogenic right ventricular dysplasia/cardiomyopathy, type 10; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy10; Cardiomyopathies; Cardiomyopathy, ARVC; CARDIOMYOPATHY, DILATED, 1BB, SUSCEPTIBILITY TO; Dilated cardiomyopathy 1BB; none provided
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Cardiomyopathy  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:DSG2
Accession:XM_047437315
Location:5UTRS;EXON

Gene Symbol:DSG2
Accession:NM_001943
Location:EXON
Amino Acid Prediction: V to G (nonsynonymous)
Amino Acid Position: 158
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARSPGRAYALLLLLICFNVGSGLHLQVLSTRNENKLLPKHPHLVRQKRAWITAPVALREGEDLSKKNPIAKIHSDLAEE
RGLKITYKYTGKGITEPPFGIFVFNKDTGELNVTSILDREETPFFLLTGYALDARGNNVEKPLELRIKVLDINDNEPGFT
QDVFVGSVEELSAAHTLVMKINATDADEPNTLNSKISYRIVSLEPAYPPVFYLNKDTGEIYTTSVTLDREEHSSYTLTVE
ARDGNGEVTDKPVKQAQVQIRILDVNDNIPVVENKVLEGMVEENQVNVEVTRIKVFDADEIGSDNWLANFTFASGNEGGY
FHIETDAQTNEGIVTLIKEVDYEEMKNLDFSVIVANKAAFHKSIRSKYKPTPIPIKVKVKNVKEGIHFKSSVISIYVSES
MDRSSKGQIIGNFQAFDEDTGLPAHARYVKLEDRDNWISVDSVTSEIKLAKLPDFESRYVQNGTYTVKIVAISEDYPRKT
ITGTVLINVEDINDNCPTLIEPVQTICHDAEYVNVTAEDLDGHPNSGPFSFSVIDKPPGMAEKWKIARQESTSVLLQQSE
KKLGRSEIQFLISDNQGFSCPEKQVLTLTVCECLHGSGCREAQHDSYVGLGPAAIALMILAFLLLLLVPLLLLMCHCGKG
AKGFTPIPGTIEMLHPWNNEGAPPEDKVVPSFLPVDQGGSLVGRNGVGGMAKEATMKGSSSASIVKGQHEMSEMDGRWEE
HRSLLSGRATQFTGATGAIMTTETTKTARATGASRDMAGAQAAAVALNEEFLRNYFTDKAASYTEEDENHTAKDCLLVYS
QEETESLNASIGCCSFIEGELDDRFLDDLGLKFKTLAEVCLGQKIDINKEIEQRQKPATETSMNTASHSLCEQTMVNSEN
TYSSGSSFPVPKSLQEANAEKVTQEIVTERSVSSRQAQKVATPLPDPMASRNVIATETSYVTGSTMPPTTVILGPSQPQS
LIVTERVYAPASTLVDQPYANEGTVVVTERVIQPHGGGSNPLEGTQHLQDVPYVMVRERESFLAPSSGVQPTLAMPNIAV
GQNVTVTERVLAPASTLQSSYQIPTENSMTARNTTVSGAGVPGPLPDFGLEESGHSNSTITTSSTRVTKHSTVQHSYS*
Variant Samples
Additional References at PubMed
PMID:17105751   PMID:18382419   PMID:18678517   PMID:19039334   PMID:19569224   PMID:20031616   PMID:20603720   PMID:20857253   PMID:21397041   PMID:21606390   PMID:21606396   PMID:23299917  
PMID:23671136   PMID:23861362   PMID:24033266   PMID:24055113   PMID:24082139   PMID:24704780   PMID:25332820   PMID:25445213   PMID:25637381   PMID:25741868   PMID:26230511   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000037307 CLINVAR
  RCV000148470 CLINVAR
  RCV000211473 CLINVAR
  RCV000250164 CLINVAR
  RCV000589551 CLINVAR
  RCV000771099 CLINVAR
  RCV000852740 CLINVAR
  RCV001081252 CLINVAR
  RCV002490506 CLINVAR
dbSNP (RS) rs191143292 CLINVAR
MedGen C0007193 CLINVAR
  C0349788 CLINVAR
  C0878544 CLINVAR
  C1857777 CLINVAR
  C1862511 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene DSG2 CLINVAR
OMIM 107970 CLINVAR
  125671 CLINVAR
  610193 CLINVAR
  612877 CLINVAR
SNOMED CT 195021004 CLINVAR
  281170005 CLINVAR
  85898001 CLINVAR