RGD:14745117 Rat Genome Database

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Variant: RGD:14745117 -  Homo sapiens

RGD ID: 14745117
RS ID: rs372915169
ClinVar ID: CV652238
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1C  CACNA1C-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 2,787,036
GRCh38 12 2,677,870
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_334t1:c.5091+3G>A
NM_000719.7:c.5091+3G>A
NM_001129830.3:c.5091+3G>A
NM_001129840.2:c.5091+3G>A
More... 		10/21/2020 intron variant benign|likely benign|uncertain significance CACNA1C-related condition; 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-AS1
Accession:NR_045725
Location:EXON;NON-CODING

Gene Symbol:CACNA1C
Accession:NM_001129833
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129829
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_000719
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_006719017
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019953
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129830
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019950
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129841
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019929
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019943
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_047429520
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001167624
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129832
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019944
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001167623
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129842
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019927
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019954
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129838
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019933
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019926
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019928
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019931
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129834
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129846
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_047429519
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_199460
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129835
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_011521020
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019932
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_047429513
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001167625
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019934
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019930
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019939
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_047429514
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_047429516
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129840
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129837
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129844
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019935
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_047429515
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129843
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019955
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_011521023
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019949
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019947
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019945
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_047429517
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129827
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129831
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129839
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129836
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019946
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019948
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_047429518
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000824511 CLINVAR
  RCV001675964 CLINVAR
  RCV002336729 CLINVAR
  RCV003918283 CLINVAR
dbSNP (RS) rs372915169 CLINVAR
MedGen C0023976 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene CACNA1C CLINVAR
  CACNA1C-AS1 CLINVAR
OMIM 114205 CLINVAR
SNOMED CT 9651007 CLINVAR