RGD:15151977 Rat Genome Database

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Variant: RGD:15151977 -  Homo sapiens

RGD ID: 15151977
RS ID: rs370354866
ClinVar ID: CV760653
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLR2A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 7,415,918
GRCh38 17 7,512,599
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.11:g.7512599C>T
NC_000017.10:g.7415918C>T
NM_000937.4:c.4606+9C>T
NM_000937.5:c.4606+9C>T
More... 		05/29/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:POLR2A
Accession:NM_000937
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000923781 CLINVAR
dbSNP (RS) rs370354866 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene POLR2A CLINVAR
OMIM 180660 CLINVAR