RGD:38467242 Rat Genome Database

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Variant: RGD:38467242 -  Homo sapiens

RGD ID: 38467242
RS ID: rs2038686712
ClinVar ID: CV940490
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLD1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 50,905,704
GRCh38 19 50,402,447
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.759-7C>G
NC_000019.10:g.50402447C>G
LRG_785t2:c.759-7C>G
NM_002691.3:c.759-7C>G
More... 		07/19/2022 intron variant likely benign|uncertain significance 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 RCV001201988 CLINVAR
dbSNP (RS) rs2038686712 CLINVAR
MedGen C2675481 CLINVAR
NCBI Gene POLD1 CLINVAR
OMIM 174761 CLINVAR
  612591 CLINVAR