RGD:151728765 Rat Genome Database

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Variant: RGD:151728765 -  Homo sapiens

RGD ID: 151728765
RS ID: rs2145245078
ClinVar ID: CV1517569
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1A  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 13,470,419
GRCh38 19 13,359,605
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000068.4:c.978+1G>C
NM_001127221.2:c.978+1G>C
NM_001174080.2:c.978+1G>C
NM_023035.3:c.978+1G>C
More... 		03/22/2022 splice donor variant likely pathogenic Migraine, familial hemiplegic 1, with progressive cerebellar ataxia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CACNA1A
Accession:NM_001127221
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_000068
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_001127222
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_023035
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_001174080
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002052185 CLINVAR
dbSNP (RS) rs2145245078 CLINVAR
MedGen C1832884 CLINVAR
NCBI Gene CACNA1A CLINVAR
OMIM 141500 CLINVAR
  601011 CLINVAR