RGD:14731718 Rat Genome Database

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Variant: RGD:14731718 -  Homo sapiens

RGD ID: 14731718
RS ID: rs1274608
ClinVar ID: CV670113
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLD1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 50,916,933
GRCh38 19 50,413,676
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001256849.1:c.2251-66C>A
NM_002691.4:c.2251-66C>A
NM_001308632.1:c.2329-66C>A
NG_033800.1:g.34354C>A
More... 		06/18/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:POLD1
Accession:NM_002691
Location:INTRON

Gene Symbol:POLD1
Accession:NM_001256849
Location:INTRON

Gene Symbol:POLD1
Accession:XM_005259008
Location:INTRON

Gene Symbol:POLD1
Accession:XM_011527038
Location:INTRON

Gene Symbol:POLD1
Accession:NM_001308632
Location:INTRON

Gene Symbol:POLD1
Accession:XM_017026882
Location:INTRON

Gene Symbol:POLD1
Accession:XM_047438947
Location:INTRON

Gene Symbol:POLD1
Accession:XM_047438949
Location:INTRON

Gene Symbol:POLD1
Accession:XM_047438946
Location:INTRON

Gene Symbol:POLD1
Accession:XM_047438948
Location:INTRON

Gene Symbol:POLD1
Accession:XM_047438950
Location:INTRON

Gene Symbol:POLD1
Accession:NR_046402
Location:INTRON;NON-CODING

Gene Symbol:POLD1
Accession:XR_935835
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000836264 CLINVAR
dbSNP (RS) rs1274608 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene POLD1 CLINVAR
OMIM 174761 CLINVAR