RGD:127295514 Rat Genome Database

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Variant: RGD:127295514 -  Homo sapiens

RGD ID: 127295514
RS ID: rs1409669851
ClinVar ID: CV1146047
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 28,493,638
GRCh38 16 28,482,317
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008654.2:g.14986G>A
NC_000016.10:g.28482317C>T
LRG_689:g.14986G>A
NM_001286104.2:c.890+10G>A
More... 		06/20/2019 intron variant likely benign Ceroid storage disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CLN3
Accession:NM_001042432
Location:INTRON

Gene Symbol:CLN3
Accession:NM_001286104
Location:INTRON

Gene Symbol:CLN3
Accession:NM_001286110
Location:INTRON

Gene Symbol:CLN3
Accession:NM_000086
Location:INTRON

Gene Symbol:CLN3
Accession:NM_001286109
Location:INTRON

Gene Symbol:CLN3
Accession:NM_001286105
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001497279 CLINVAR
dbSNP (RS) rs1409669851 CLINVAR
MedGen C0027877 CLINVAR
NCBI Gene CLN3 CLINVAR
OMIM 607042 CLINVAR
SNOMED CT 42012007 CLINVAR