RGD:156061174 Rat Genome Database

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Variant: RGD:156061174 -  Homo sapiens

RGD ID: 156061174
ClinVar ID: CV1979006
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 28,489,197
GRCh38 16 28,477,876
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001035897.1:p.Cys353Tyr
NG_008654.2:g.19427G>A
NC_000016.10:g.28477876C>T
NC_000016.9:g.28489197C>T
More... 		08/23/2022 missense variant uncertain significance Ceroid storage disease
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:CLN3
Accession:NM_000086
Location:EXON

Gene Symbol:CLN3
Accession:NM_001286109
Location:EXON

Gene Symbol:CLN3
Accession:NM_001286104
Location:EXON

Gene Symbol:CLN3
Accession:NM_001286105
Location:EXON

Gene Symbol:CLN3
Accession:NM_001286110
Location:EXON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002590982 CLINVAR
MedGen C0027877 CLINVAR
NCBI Gene CLN3 CLINVAR
OMIM 607042 CLINVAR
SNOMED CT 42012007 CLINVAR