RGD:26914333 Rat Genome Database

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Variant: RGD:26914333 -  Homo sapiens

RGD ID: 26914333
RS ID: rs1341523879
ClinVar ID: CV828577
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CAV3  OXTR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 8,787,227
GRCh38 3 8,745,541
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_329t1:c.130G>A
NM_001234.5:c.130G>A
NM_033337.3:c.130G>A
LRG_329:g.16732G>A
More... 		03/21/2019 missense variant uncertain significance
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_033337
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMAEEHTDLEAQIVKDIHCKEIDLVNRDPKNINEDIVKVDFEDMIAEPVGTYSFDGVWKVSYTTFTVSKYWCYRLLSTLL
GVPLALLWGFLFACISFCHIWAVVPCIKSYLIEIQCISHIYSLCIRTFCNPLFAALGQVCSSIKVVLRKEV*

Gene Symbol:CAV3
Accession:NM_001234
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMAEEHTDLEAQIVKDIHCKEIDLVNRDPKNINEDIVKVDFEDMIAEPVGTYSFDGVWKVSYTTFTVSKYWCYRLLSTLL
GVPLALLWGFLFACISFCHIWAVVPCIKSYLIEIQCISHIYSLCIRTFCNPLFAALGQVCSSIKVVLRKEV*

Gene Symbol:OXTR
Accession:NM_001354653
Location:INTRON

Gene Symbol:OXTR
Accession:NM_001354656
Location:INTRON

Gene Symbol:OXTR
Accession:NM_001354655
Location:INTRON

Gene Symbol:OXTR
Accession:NM_000916
Location:INTRON

Gene Symbol:OXTR
Accession:NM_001354654
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:28492532   PMID:32004987   PMID:32528171  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001054902 CLINVAR
dbSNP (RS) rs1341523879 CLINVAR
MedGen C0023976 CLINVAR
NCBI Gene CAV3 CLINVAR
  OXTR CLINVAR
OMIM 167055 CLINVAR
  601253 CLINVAR
SNOMED CT 9651007 CLINVAR