RGD:151856806 Rat Genome Database

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Variant: RGD:151856806 -  Homo sapiens

RGD ID: 151856806
RS ID: rs2131937028
ClinVar ID: CV1401938
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLR3A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 79,752,954
GRCh38 10 77,993,196
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000010.11:g.77993196C>T
NC_000010.10:g.79752954C>T
NM_007055.4:c.2787+1G>A
NG_029648.1:g.41345G>A
 07/19/2021 splice donor variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:POLR3A
Accession:NM_007055
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:21855841   PMID:25339210   PMID:27612211   PMID:28492532   PMID:30414627   PMID:30450527  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002017280 CLINVAR
dbSNP (RS) rs2131937028 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene POLR3A CLINVAR
OMIM 614258 CLINVAR