RGD:150501998 Rat Genome Database

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Variant: RGD:150501998 -  Homo sapiens

RGD ID: 150501998
RS ID: rs78728578
ClinVar ID: CV1224358
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1D  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 53,843,843
GRCh38 3 53,809,816
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001128839.3:c.5800-162C>T
NM_001128840.3:c.5872-162C>T
NM_000720.4:c.5932-162C>T
NG_032999.1:g.319768C>T
More... 		11/10/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CACNA1D
Accession:NM_001128840
Location:INTRON

Gene Symbol:CACNA1D
Accession:NM_001128839
Location:INTRON

Gene Symbol:CACNA1D
Accession:NM_000720
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_005265448
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_011534094
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_011534100
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_011534096
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_011534097
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_011534099
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_017007141
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_017007137
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_017007139
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_017007142
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_017007145
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_017007143
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_017007138
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_017007140
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_017007144
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_047448874
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_047448871
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_047448872
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_047448873
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001620999 CLINVAR
dbSNP (RS) rs78728578 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CACNA1D CLINVAR
OMIM 114206 CLINVAR