RGD:127244850 Rat Genome Database

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Variant: RGD:127244850 -  Homo sapiens

RGD ID: 127244850
RS ID: rs777804458
ClinVar ID: CV1084982
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLD1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 50,919,860
GRCh38 19 50,416,603
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002691.4:c.2954-7C>T
NM_001308632.1:c.3032-7C>T
LRG_785:g.37281C>T
LRG_785t1:c.2954-7C>T
More... 		06/06/2020 intron variant likely benign Colorectal cancer 10; COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 19q
Disease Annotations     Click to see Annotation Detail View


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 References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001398624 CLINVAR
dbSNP (RS) rs777804458 CLINVAR
MedGen C2675481 CLINVAR
NCBI Gene POLD1 CLINVAR
OMIM 174761 CLINVAR
  612591 CLINVAR