RGD:11622646 Rat Genome Database

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Variant: RGD:11622646 -  Homo sapiens

RGD ID: 11622646
RS ID: rs751235567
ClinVar ID: CV342609
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 28,488,759
GRCh38 16 28,477,438
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_689t1:c.*78G>A
LRG_689t2:c.*78G>A
NM_000086.2:c.*78G>A
LRG_689:g.19865G>A
More... 		01/13/2018 3 prime utr variant uncertain significance CLN3 Disease; CLN3-Related Neuronal Ceroid-Lipofuscinosis; Spielmeyer Sjogren disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CLN3
Accession:NM_001286110
Location:3UTRS;EXON

Gene Symbol:CLN3
Accession:NM_001286104
Location:3UTRS;EXON

Gene Symbol:CLN3
Accession:NM_000086
Location:3UTRS;EXON

Gene Symbol:CLN3
Accession:NM_001286105
Location:3UTRS;EXON

Gene Symbol:CLN3
Accession:NM_001042432
Location:3UTRS;EXON

Gene Symbol:CLN3
Accession:NM_001286109
Location:3UTRS;INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000363027 CLINVAR
  RCV001120927 CLINVAR
dbSNP (RS) rs751235567 CLINVAR
MedGen C0751383 CLINVAR
  CN239251 CLINVAR
NCBI Gene CLN3 CLINVAR
OMIM 204200 CLINVAR
  607042 CLINVAR