RGD:156344590 Rat Genome Database

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Variant: RGD:156344590 -  Homo sapiens

RGD ID: 156344590
ClinVar ID: CV2176237
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN5  
Reference Nucleotide: -
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 13 77,574,573
GRCh38 13 77,000,438
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001366624.2:c.*15-20_*15-19insA
NM_006493.4:c.566-20_566-19insA
LRG_692:g.13515_13516insA
NG_009064.1:g.13515_13516insA
More... 		03/28/2022 intron variant likely benign Ceroid storage disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CLN5
Accession:NM_001366624
Location:3UTRS;INTRON

Gene Symbol:CLN5
Accession:NM_006493
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003030486 CLINVAR
MedGen C0027877 CLINVAR
NCBI Gene CLN5 CLINVAR
OMIM 608102 CLINVAR
SNOMED CT 42012007 CLINVAR