RGD:150469082 Rat Genome Database

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Variant: RGD:150469082 -  Homo sapiens

RGD ID: 150469082
RS ID: rs71384635
ClinVar ID: CV1207513
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1H  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 1,254,833
GRCh38 16 1,204,833
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001005407.2:c.2452-281C>T
NM_021098.3:c.2452-281C>T
NG_012647.1:g.56593C>T
NC_000016.10:g.1204833C>T
More... 		11/22/2019 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CACNA1H
Accession:NM_021098
Location:INTRON

Gene Symbol:CACNA1H
Accession:NM_001005407
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_005255652
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_006720967
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_006720968
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_006720963
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_006720964
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_006720965
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_011522727
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_011522724
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_017023819
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_017023820
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_017023821
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_047434836
Location:INTRON

Gene Symbol:CACNA1H
Accession:XR_002957850
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001588202 CLINVAR
dbSNP (RS) rs71384635 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CACNA1H CLINVAR
OMIM 607904 CLINVAR