RGD:9690130 Rat Genome Database

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Variant: RGD:9690130 -  Homo sapiens

RGD ID: 9690130
RS ID: rs200562715
ClinVar ID: CV173946
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CAV3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 8,775,601
GRCh38 3 8,733,915
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_329t1:c.39C>T
LRG_329:g.5106C>T
NG_008797.2:g.5106C>T
NC_000003.12:g.8733915C>T
More...
01/28/2021 synonymous variant benign|likely benign AllHighlyPenetrant; 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_033337
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 13
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMAEEHTDLEAQIVKDIHCKEIDLVNRDPKNINEDIVKVDFEDVIAEPVGTYSFDGVWKVSYTTFTVSKYWCYRLLSTLL
GVPLALLWGFLFACISFCHIWAVVPCIKSYLIEIQCISHIYSLCIRTFCNPLFAALGQVCSSIKVVLRKEV*

Gene Symbol:CAV3
Accession:NM_001234
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 13
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMAEEHTDLEAQIVKDIHCKEIDLVNRDPKNINEDIVKVDFEDVIAEPVGTYSFDGVWKVSYTTFTVSKYWCYRLLSTLL
GVPLALLWGFLFACISFCHIWAVVPCIKSYLIEIQCISHIYSLCIRTFCNPLFAALGQVCSSIKVVLRKEV*

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000155783 CLINVAR
  RCV000827127 CLINVAR
  RCV001087560 CLINVAR
  RCV002354375 CLINVAR
dbSNP (RS) rs200562715 CLINVAR
MedGen C0023976 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene CAV3 CLINVAR
OMIM 601253 CLINVAR
SNOMED CT 9651007 CLINVAR