RGD:12848312 Rat Genome Database

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Variant: RGD:12848312 -  Homo sapiens

RGD ID: 12848312
RS ID: rs769431445
ClinVar ID: CV378013
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLD1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 50,912,761
GRCh38 19 50,409,504
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002691.3:c.2007-15C>T
LRG_785t1:c.2007-15C>T
LRG_785t2:c.2085-15C>T
NM_001256849.1:c.2007-15C>T
More... 		12/13/2021 intron variant likely benign AllHighlyPenetrant; 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 RCV000445050 CLINVAR
  RCV000662375 CLINVAR
dbSNP (RS) rs769431445 CLINVAR
MedGen C2675481 CLINVAR
  CN169374 CLINVAR
NCBI Gene POLD1 CLINVAR
OMIM 174761 CLINVAR
  612591 CLINVAR