RGD:8597840 Rat Genome Database

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Variant: RGD:8597840 -  Homo sapiens

RGD ID: 8597840
RS ID: rs116840778
ClinVar ID: CV23322
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CAV3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 8,775,642
GRCh38 3 8,733,956
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
LRG_329t1:c.80G>A
LRG_329:g.5147G>A
NG_008797.2:g.5147G>A
NC_000003.12:g.8733956G>A
More... 		08/26/2022 missense|missense variant pathogenic adolescent|childhood <1 / 1 000 000 CAV3-Related Distal Myopathy; CAV3-Related Isolated HyperCKemia; CAV3-Related Rippling Muscle Disease; Distal myopathy, Tateyama type; Elevated serum creatine phosphokinase; Familial hypertrophic cardiomyopathy 1; HYPERCKEMIA, IDIOPATHIC; Hypertrophic cardiomyopathy 1; Limb-girdle muscular dystrophy, type 1C; Long QT syndrome 9; MYH7-Related Familial Hypertrophic Cardiomyopathy; none provided; Rippling muscle disease 2
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CAV3
Accession:NM_033337
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMAEEHTDLEAQIVKDIHCKEIDLVNQDPKNINEDIVKVDFEDVIAEPVGTYSFDGVWKVSYTTFTVSKYWCYRLLSTLL
GVPLALLWGFLFACISFCHIWAVVPCIKSYLIEIQCISHIYSLCIRTFCNPLFAALGQVCSSIKVVLRKEV*

Gene Symbol:CAV3
Accession:NM_001234
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMAEEHTDLEAQIVKDIHCKEIDLVNQDPKNINEDIVKVDFEDVIAEPVGTYSFDGVWKVSYTTFTVSKYWCYRLLSTLL
GVPLALLWGFLFACISFCHIWAVVPCIKSYLIEIQCISHIYSLCIRTFCNPLFAALGQVCSSIKVVLRKEV*
Variant Samples
Additional References at PubMed
PMID:10227634   PMID:10746614   PMID:11353417   PMID:11431690   PMID:11756609   PMID:11805270   PMID:12269726   PMID:12807393   PMID:12839838   PMID:12939441   PMID:14633633   PMID:15318349  
PMID:15564037   PMID:15580566   PMID:16723230   PMID:17897828   PMID:18583131   PMID:18930476   PMID:19380584   PMID:20472890   PMID:21404291   PMID:21610159   PMID:25741868   PMID:26467025  
PMID:28492532   PMID:28981925   PMID:30055862   PMID:30174172   PMID:30723005   PMID:31036801  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000008777 CLINVAR
  RCV000008778 CLINVAR
  RCV000023083 CLINVAR
  RCV000408119 CLINVAR
  RCV000527324 CLINVAR
  RCV002490340 CLINVAR
dbSNP (RS) rs116840778 CLINVAR
MedGen C0023976 CLINVAR
  C0241005 CLINVAR
  C1832560 CLINVAR
  C3280443 CLINVAR
  C3661900 CLINVAR
NCBI Gene CAV3 CLINVAR
  SSUH2 CLINVAR
OMIM 123320 CLINVAR
  192600 CLINVAR
  601253 CLINVAR
  606072 CLINVAR
  607801 CLINVAR
  611818 CLINVAR
  614321 CLINVAR
  617479 CLINVAR
OMIM Allele 601253.0007 CLINVAR
SNOMED CT 9651007 CLINVAR