RGD:28892621 Rat Genome Database

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Variant: RGD:28892621 -  Homo sapiens

RGD ID: 28892621
RS ID: rs1189755650
ClinVar ID: CV874043
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN6  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 68,499,729
GRCh38 15 68,207,391
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017882.2:c.*749T>C
NM_017882.3:c.*749T>C
NG_008764.2:g.54821T>C
NC_000015.10:g.68207391A>G
More... 		01/12/2018 3 prime utr 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:3UTRS;EXON

Gene Symbol:CLN6
Accession:NM_001411068
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001121408 CLINVAR
dbSNP (RS) rs1189755650 CLINVAR
MedGen C0027877 CLINVAR
NCBI Gene CLN6 CLINVAR
OMIM 606725 CLINVAR
SNOMED CT 42012007 CLINVAR