RGD:8602520 Rat Genome Database

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Variant: RGD:8602520 -  Homo sapiens

RGD ID: 8602520
RS ID: rs116840795
ClinVar ID: CV40368
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CAV3  OXTR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 8,787,266
GRCh38 3 8,745,580
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_329:g.16771G>A
NG_008797.2:g.16771G>A
NC_000003.12:g.8745580G>A
NC_000003.11:g.8787266G>A
More... 		01/31/2023 missense|missense variant likely pathogenic|uncertain significance|not provided Cardiomyopathies; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CAV3
Accession:NM_001234
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 57
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMAEEHTDLEAQIVKDIHCKEIDLVNRDPKNINEDIVKVDFEDVIAEPVGTYSFDGMWKVSYTTFTVSKYWCYRLLSTLL
GVPLALLWGFLFACISFCHIWAVVPCIKSYLIEIQCISHIYSLCIRTFCNPLFAALGQVCSSIKVVLRKEV*

Gene Symbol:CAV3
Accession:NM_033337
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 57
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMAEEHTDLEAQIVKDIHCKEIDLVNRDPKNINEDIVKVDFEDVIAEPVGTYSFDGMWKVSYTTFTVSKYWCYRLLSTLL
GVPLALLWGFLFACISFCHIWAVVPCIKSYLIEIQCISHIYSLCIRTFCNPLFAALGQVCSSIKVVLRKEV*

Gene Symbol:OXTR
Accession:NM_000916
Location:INTRON

Gene Symbol:OXTR
Accession:NM_001354654
Location:INTRON

Gene Symbol:OXTR
Accession:NM_001354656
Location:INTRON

Gene Symbol:OXTR
Accession:NM_001354653
Location:INTRON

Gene Symbol:OXTR
Accession:NM_001354655
Location:INTRON

Gene Symbol:OXTR
Accession:XR_007095681
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:15099591   PMID:22581547   PMID:25741868   PMID:26404900   PMID:27772553   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000024391 CLINVAR
  RCV000706810 CLINVAR
  RCV001171082 CLINVAR
dbSNP (RS) rs116840795 CLINVAR
MedGen C0023976 CLINVAR
  C0878544 CLINVAR
  C3661900 CLINVAR
NCBI Gene CAV3 CLINVAR
  OXTR CLINVAR
OMIM 167055 CLINVAR
  601253 CLINVAR
SNOMED CT 85898001 CLINVAR
  9651007 CLINVAR