RGD:126915058 Rat Genome Database

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Variant: RGD:126915058 -  Homo sapiens

RGD ID: 126915058
RS ID: rs942972881
ClinVar ID: CV1049552
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN3  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 28,494,000
GRCh38 16 28,482,679
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_689t1:c.791-7C>A
NM_001286105.2:c.491-7C>A
NM_001286109.2:c.557-7C>A
NM_001286110.2:c.629-7C>A
More... 		09/01/2022 intron variant likely benign|uncertain significance Ceroid storage disease; 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_001286104
Location:INTRON

Gene Symbol:CLN3
Accession:NM_001286105
Location:INTRON

Gene Symbol:CLN3
Accession:NM_001286110
Location:INTRON

Gene Symbol:CLN3
Accession:NM_001286109
Location:INTRON

Gene Symbol:CLN3
Accession:NM_001042432
Location:INTRON

Gene Symbol:CLN3
Accession:NM_000086
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001370695 CLINVAR
  RCV002245980 CLINVAR
dbSNP (RS) rs942972881 CLINVAR
MedGen C0027877 CLINVAR
  C0751383 CLINVAR
NCBI Gene CLN3 CLINVAR
OMIM 204200 CLINVAR
  607042 CLINVAR
SNOMED CT 42012007 CLINVAR