RGD:28892900 Rat Genome Database

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Variant: RGD:28892900 -  Homo sapiens

RGD ID: 28892900
RS ID: rs761161043
ClinVar ID: CV876560
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN6  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 68,500,751
GRCh38 15 68,208,413
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017882.3:c.666-3C>T
NM_017882.2:c.666-3C>T
NG_008764.2:g.53799C>T
NC_000015.9:g.68500751G>A
More... 		08/27/2021 intron variant uncertain significance Ceroid storage disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CLN6
Accession:NM_017882
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:CLN6
Accession:NM_001411068
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001121503 CLINVAR
dbSNP (RS) rs761161043 CLINVAR
MedGen C0027877 CLINVAR
NCBI Gene CLN6 CLINVAR
OMIM 606725 CLINVAR
SNOMED CT 42012007 CLINVAR