RGD:11348471 Rat Genome Database

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Variant: RGD:11348471 -  Homo sapiens

RGD ID: 11348471
RS ID: rs373416476
ClinVar ID: CV243482
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLD1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 50,912,927
GRCh38 19 50,409,670
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_785t1:c.2154+4G>A
LRG_785t2:c.2232+4G>A
NM_001256849.1:c.2154+4G>A
NM_001308632.1:c.2232+4G>A
More... 		10/29/2021 intron variant likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance adult the precise incidence and prevalence of ccd, considered to be the most frequently occurring congenital myopathy, are unknown. Cancer predisposition; Colorectal cancer 10; COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 19q; 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: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:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000226743 CLINVAR
  RCV000759942 CLINVAR
  RCV001014610 CLINVAR
dbSNP (RS) rs373416476 CLINVAR
MedGen C0027672 CLINVAR
  C2675481 CLINVAR
  C3661900 CLINVAR
NCBI Gene POLD1 CLINVAR
OMIM 174761 CLINVAR
  612591 CLINVAR
SNOMED CT 699346009 CLINVAR