RGD:15185572 Rat Genome Database

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Variant: RGD:15185572 -  Homo sapiens

RGD ID: 15185572
RS ID: rs201778792
ClinVar ID: CV774640
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CERKL  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 182,412,541
GRCh38 2 181,547,814
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001030313.3:c.952+8G>A
NM_001030312.3:c.820+8G>A
NM_001030311.2:c.1237+8G>A
NM_001030311.3:c.1237+8G>A
More... 		01/08/2020 intron variant likely benign none provided; Tapetoretinal degeneration
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CERKL
Accession:NM_001030312
Location:INTRON

Gene Symbol:CERKL
Accession:NM_201548
Location:INTRON

Gene Symbol:CERKL
Accession:NM_001030313
Location:INTRON

Gene Symbol:CERKL
Accession:NM_001030311
Location:INTRON

Gene Symbol:CERKL
Accession:NM_001160277
Location:INTRON

Gene Symbol:CERKL
Accession:NR_027690
Location:INTRON;NON-CODING

Gene Symbol:CERKL
Accession:NR_027689
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000931097 CLINVAR
  RCV001276323 CLINVAR
dbSNP (RS) rs201778792 CLINVAR
MedGen C0035334 CLINVAR
  C3661900 CLINVAR
NCBI Gene CERKL CLINVAR
OMIM 268000 CLINVAR
  608381 CLINVAR
SNOMED CT 28835009 CLINVAR