RGD:152058771 Rat Genome Database

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Variant: RGD:152058771 -  Homo sapiens

RGD ID: 152058771
RS ID: rs1338670823
ClinVar ID: CV1641571
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GTPBP2  POLR1C  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 43,593,945
GRCh38 6 43,626,208
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001286216.2:c.134+18C>T
NM_019096.5:c.398+18C>T
NM_001318876.2:c.945+96937G>A
NC_000006.12:g.43626208G>A
More... 		10/20/2021 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:POLR1C
Accession:NM_001318876
Location:INTRON

Gene Symbol:GTPBP2
Accession:XM_024446478
Location:INTRON

Gene Symbol:GTPBP2
Accession:XM_047418938
Location:INTRON

Gene Symbol:POLR1C
Accession:NM_001363658
Location:INTRON

Gene Symbol:GTPBP2
Accession:NM_019096
Location:INTRON

Gene Symbol:POLR1C
Accession:XM_047419577
Location:INTRON

Gene Symbol:GTPBP2
Accession:XM_024446476
Location:INTRON

Gene Symbol:POLR1C
Accession:NM_203290
Location:INTRON

Gene Symbol:GTPBP2
Accession:NM_001286216
Location:INTRON

Gene Symbol:GTPBP2
Accession:XM_024446477
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002198144 CLINVAR
dbSNP (RS) rs1338670823 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GTPBP2 CLINVAR
  POLR1C CLINVAR
OMIM 607434 CLINVAR
  610060 CLINVAR