RGD:150448581 Rat Genome Database

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Variant: RGD:150448581 -  Homo sapiens

RGD ID: 150448581
RS ID: rs2297334
ClinVar ID: CV1270482
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124901323  POLR1C  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 44,355,399
GRCh38 6 44,387,662
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001318876.2:c.946-54228G>T
NC_000006.12:g.44387662G>T
NC_000006.11:g.44355399G>T
NM_001253.3:c.-162G>T
More...
11/10/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:LOC124901323
Accession:XR_007059595
Location:EXON;NON-CODING

Gene Symbol:POLR1C
Accession:NM_001318876
Location:INTRON

Gene Symbol:POLR1C
Accession:NM_001363658
Location:INTRON

Gene Symbol:POLR1C
Accession:NM_203290
Location:INTRON

Gene Symbol:POLR1C
Accession:XM_047419577
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001691620 CLINVAR
dbSNP (RS) rs2297334 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CDC5L CLINVAR
  LOC129996571 CLINVAR
  POLR1C CLINVAR
OMIM 602868 CLINVAR
  610060 CLINVAR