RGD:28898708 Rat Genome Database

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Variant: RGD:28898708 -  Homo sapiens

RGD ID: 28898708
RS ID: rs189611501
ClinVar ID: CV895241
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CEP85L  PLN  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 118,880,029
GRCh38 6 118,558,866
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_390t1:c.-56C>T
NM_002667.5:c.-56C>T
NM_001042475.3:c.1020+6663G>A
NM_206921.3:c.1020+6663G>A
More... 		04/27/2017 5 prime utr variant benign|uncertain significance AllHighlyPenetrant; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PLN
Accession:NM_002667
Location:5UTRS;EXON

Gene Symbol:CEP85L
Accession:XM_047418762
Location:5UTRS;INTRON

Gene Symbol:CEP85L
Accession:NM_001178035
Location:INTRON

Gene Symbol:CEP85L
Accession:XM_005266972
Location:INTRON

Gene Symbol:CEP85L
Accession:XM_011535811
Location:INTRON

Gene Symbol:CEP85L
Accession:XM_047418760
Location:INTRON

Gene Symbol:CEP85L
Accession:XM_047418758
Location:INTRON

Gene Symbol:CEP85L
Accession:XM_017010846
Location:INTRON

Gene Symbol:CEP85L
Accession:XM_047418761
Location:INTRON

Gene Symbol:CEP85L
Accession:NM_206921
Location:INTRON

Gene Symbol:CEP85L
Accession:XM_011535810
Location:INTRON

Gene Symbol:CEP85L
Accession:NM_001042475
Location:INTRON

Gene Symbol:CEP85L
Accession:XM_047418759
Location:INTRON

Gene Symbol:CEP85L
Accession:XM_005266970
Location:INTRON

Gene Symbol:CEP85L
Accession:XM_005266971
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25928149  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001155537 CLINVAR
  RCV001655686 CLINVAR
  RCV001702768 CLINVAR
dbSNP (RS) rs189611501 CLINVAR
MedGen C1835928 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CEP85L CLINVAR
  PLN CLINVAR
OMIM 172405 CLINVAR
  609909 CLINVAR
  618865 CLINVAR