RGD:405194221 Rat Genome Database

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Variant: RGD:405194221 -  Homo sapiens

RGD ID: 405194221
ClinVar ID: CV3167559
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLH  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 43,550,733
GRCh38 6 43,582,996
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001291969.2:c.-17-11T>C
NM_001291970.2:c.138-11T>C
NM_006502.3:c.138-11T>C
LRG_470:g.11856T>C
More... 		12/12/2023 intron variant likely benign none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:POLH
Accession:NM_001291969
Location:5UTRS;INTRON

Gene Symbol:POLR1C
Accession:NM_001318876
Location:INTRON

Gene Symbol:POLR1C
Accession:NM_001363658
Location:INTRON

Gene Symbol:POLH
Accession:NM_001291970
Location:INTRON

Gene Symbol:POLH
Accession:NM_006502
Location:INTRON

Gene Symbol:POLH
Accession:XM_047418900
Location:INTRON

Gene Symbol:POLR1C
Accession:NM_203290
Location:INTRON

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003859965 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene POLH CLINVAR
OMIM 603968 CLINVAR