RGD:8602529 Rat Genome Database

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Variant: RGD:8602529 -  Homo sapiens

RGD ID: 8602529
RS ID: rs13087941
ClinVar ID: CV40377
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CAV3  OXTR  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 8,787,220
GRCh38 3 8,745,534
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_329t1:c.123T>C
LRG_329:g.16725T>C
NG_008797.2:g.16725T>C
NC_000003.12:g.8745534T>C
More... 		03/06/2019 synonymous variant benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided AllHighlyPenetrant; Familial long QT syndrome; none provided; Romano-Ward syndrome; Ventricular fibrillation with prolonged QT interval
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: F to F (synonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMAEEHTDLEAQIVKDIHCKEIDLVNRDPKNINEDIVKVDFEDVIAEPVGTYSFDGVWKVSYTTFTVSKYWCYRLLSTLL
GVPLALLWGFLFACISFCHIWAVVPCIKSYLIEIQCISHIYSLCIRTFCNPLFAALGQVCSSIKVVLRKEV*

Gene Symbol:CAV3
Accession:NM_033337
Location:EXON
Amino Acid Prediction: F to F (synonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMAEEHTDLEAQIVKDIHCKEIDLVNRDPKNINEDIVKVDFEDVIAEPVGTYSFDGVWKVSYTTFTVSKYWCYRLLSTLL
GVPLALLWGFLFACISFCHIWAVVPCIKSYLIEIQCISHIYSLCIRTFCNPLFAALGQVCSSIKVVLRKEV*

Gene Symbol:OXTR
Accession:NM_000916
Location:INTRON

Gene Symbol:OXTR
Accession:NM_001354655
Location:INTRON

Gene Symbol:OXTR
Accession:NM_001354656
Location:INTRON

Gene Symbol:OXTR
Accession:NM_001354653
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:17556197   PMID:24033266   PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000024401 CLINVAR
  RCV000039797 CLINVAR
  RCV000246688 CLINVAR
  RCV000271441 CLINVAR
  RCV000310948 CLINVAR
  RCV000366101 CLINVAR
  RCV000393888 CLINVAR
dbSNP (RS) rs13087941 CLINVAR
MedGen C0023976 CLINVAR
  C1141890 CLINVAR
  C3661900 CLINVAR
  C5679790 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
  CN239426 CLINVAR
NCBI Gene CAV3 CLINVAR
  OXTR CLINVAR
OMIM 167055 CLINVAR
  192500 CLINVAR
  601253 CLINVAR
SNOMED CT 442917000 CLINVAR
  9651007 CLINVAR