RGD:11594056 Rat Genome Database

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Variant: RGD:11594056 -  Homo sapiens

RGD ID: 11594056
RS ID: rs12614187
ClinVar ID: CV283454
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CERKL  ITGA4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 182,402,491
GRCh38 2 181,537,764
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.181537764C>T
NC_000002.11:g.182402491C>T
NM_201548.4:c.*420G>A
NG_050623.1:g.85873C>T
More... 		01/13/2018 3 prime utr variant benign|likely benign 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_201548
Location:3UTRS;EXON

Gene Symbol:CERKL
Accession:NM_001160277
Location:3UTRS;EXON

Gene Symbol:CERKL
Accession:NM_001030313
Location:3UTRS;EXON

Gene Symbol:ITGA4
Accession:NM_000885
Location:3UTRS;EXON

Gene Symbol:CERKL
Accession:NM_001030312
Location:3UTRS;EXON

Gene Symbol:CERKL
Accession:NM_001030311
Location:3UTRS;EXON

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

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

Gene Symbol:ITGA4
Accession:NM_001316312
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000355145 CLINVAR
dbSNP (RS) rs12614187 CLINVAR
MedGen C0035334 CLINVAR
NCBI Gene CERKL CLINVAR
  ITGA4 CLINVAR
OMIM 192975 CLINVAR
  268000 CLINVAR
  608381 CLINVAR
SNOMED CT 28835009 CLINVAR