RGD:127332877 Rat Genome Database

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Variant: RGD:127332877 -  Homo sapiens

RGD ID: 127332877
RS ID: rs750043205
ClinVar ID: CV1125148
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 28,488,966
GRCh38 16 28,477,645
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_689t1:c.1198-10G>A
NM_001286110.2:c.1036-10G>A
NM_001286104.2:c.1126-10G>A
NM_000086.2:c.1198-10G>A
More... 		03/01/2020 intron variant likely benign Ceroid storage disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CLN3
Accession:NM_000086
Location:INTRON

Gene Symbol:CLN3
Accession:NM_001286109
Location:INTRON

Gene Symbol:CLN3
Accession:NM_001286105
Location:INTRON

Gene Symbol:CLN3
Accession:NM_001042432
Location:INTRON

Gene Symbol:CLN3
Accession:NM_001286104
Location:INTRON

Gene Symbol:CLN3
Accession:NM_001286110
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001472550 CLINVAR
dbSNP (RS) rs750043205 CLINVAR
MedGen C0027877 CLINVAR
NCBI Gene CLN3 CLINVAR
OMIM 607042 CLINVAR
SNOMED CT 42012007 CLINVAR