RGD:13526056 Rat Genome Database

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Variant: RGD:13526056 -  Homo sapiens

RGD ID: 13526056
RS ID: rs776886395
ClinVar ID: CV513023
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CERKL  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 182,468,808
GRCh38 2 181,604,081
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_021178.2:g.58027A>G
NC_000002.12:g.181604081T>C
NC_000002.11:g.182468808T>C
NM_201548.5:c.239-2A>G
More... 		09/03/2019 splice acceptor variant pathogenic|likely pathogenic none provided; RP 26
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CERKL
Accession:NM_001030313
Location:INTRON

Gene Symbol:CERKL
Accession:NM_001030312
Location:INTRON

Gene Symbol:CERKL
Accession:NM_001160277
Location:INTRON

Gene Symbol:CERKL
Accession:NM_201548
Location:INTRON

Gene Symbol:CERKL
Accession:NM_001030311
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:14681825   PMID:16199547   PMID:23591405   PMID:24043777   PMID:25741868   PMID:28492532   PMID:31054281   PMID:33090715  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000625655 CLINVAR
  RCV001211583 CLINVAR
dbSNP (RS) rs776886395 CLINVAR
MedGen C1842127 CLINVAR
  C3661900 CLINVAR
NCBI Gene CERKL CLINVAR
OMIM 608380 CLINVAR
  608381 CLINVAR