RGD:28877234 Rat Genome Database

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Variant: RGD:28877234 -  Homo sapiens

RGD ID: 28877234
RS ID: rs1249079296
ClinVar ID: CV874046
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN6  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 68,500,032
GRCh38 15 68,207,694
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000015.10:g.68207694G>A
NM_017882.3:c.*446C>T
NG_008764.2:g.54518C>T
LRG_832:g.54518C>T
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_001411068
Location:3UTRS;EXON

Gene Symbol:CLN6
Accession:NM_017882
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001116512 CLINVAR
dbSNP (RS) rs1249079296 CLINVAR
MedGen C0027877 CLINVAR
NCBI Gene CLN6 CLINVAR
OMIM 606725 CLINVAR
SNOMED CT 42012007 CLINVAR