RGD:13482346 Rat Genome Database

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Variant: RGD:13482346 -  Homo sapiens

RGD ID: 13482346
RS ID: rs1312876547
ClinVar ID: CV480300
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLD1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 50,902,108
GRCh38 19 50,398,851
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_785t1:c.-1G>A
NM_001256849.1:c.-1G>A
LRG_785:g.19529G>A
NG_033800.1:g.19529G>A
More... 		05/01/2019 5 prime utr variant uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:POLD1
Accession:NM_001256849
Location:EXON

Gene Symbol:POLD1
Accession:XM_005259008
Location:EXON

Gene Symbol:POLD1
Accession:XM_011527038
Location:EXON

Gene Symbol:POLD1
Accession:XM_017026882
Location:EXON

Gene Symbol:POLD1
Accession:XM_047438947
Location:EXON

Gene Symbol:POLD1
Accession:XM_047438949
Location:EXON

Gene Symbol:POLD1
Accession:XM_047438946
Location:EXON

Gene Symbol:POLD1
Accession:XM_047438948
Location:EXON

Gene Symbol:POLD1
Accession:XM_047438950
Location:EXON

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

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

Gene Symbol:POLD1
Accession:NM_001308632
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:26467025  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000566996 CLINVAR
  RCV000759224 CLINVAR
dbSNP (RS) rs1312876547 CLINVAR
MedGen C0027672 CLINVAR
  C3661900 CLINVAR
NCBI Gene POLD1 CLINVAR
OMIM 174761 CLINVAR
SNOMED CT 699346009 CLINVAR