RGD:15114205 Rat Genome Database

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Variant: RGD:15114205 -  Homo sapiens

RGD ID: 15114205
RS ID: rs2909053
ClinVar ID: CV685376
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1C  CACNA1C-AS1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 2,794,728
GRCh38 12 2,685,562
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001129844.2:c.5565-174T>C
NM_001129839.2:c.5592-174T>C
NM_001167625.2:c.5754-174T>C
NM_199460.4:c.5823-174T>C
More... 		12/31/2019 intron variant benign 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:CACNA1C
Accession:NM_001167625
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129841
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_011521020
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019928
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019955
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019931
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019939
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_047429514
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001167624
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129840
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129832
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129842
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019935
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019945
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019954
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129827
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019926
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_047429516
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_047429517
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_047429519
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129835
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129846
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019953
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129830
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019946
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_047429513
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129837
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019949
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_047429515
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_199460
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129834
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129839
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_006719017
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019932
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019933
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019944
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129833
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019930
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019948
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_000719
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_047429518
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019929
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019947
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019950
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_047429520
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_011521023
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019927
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129829
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129838
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129831
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129843
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129844
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019934
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019943
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001167623
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129836
Location:INTRON

Gene Symbol:CACNA1C-AS1
Accession:NR_045725
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000860490 CLINVAR
  RCV001683669 CLINVAR
dbSNP (RS) rs2909053 CLINVAR
MedGen C0023976 CLINVAR
  C3661900 CLINVAR
NCBI Gene CACNA1C CLINVAR
  CACNA1C-AS1 CLINVAR
OMIM 114205 CLINVAR
SNOMED CT 9651007 CLINVAR