RGD:14738931 Rat Genome Database

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Variant: RGD:14738931 -  Homo sapiens

RGD ID: 14738931
RS ID: rs12546965
ClinVar ID: CV662767
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN8  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 1,728,292
GRCh38 8 1,780,126
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_018941.4:c.544-124T>C
NG_008656.2:g.29349T>C
NC_000008.11:g.1780126T>C
NC_000008.10:g.1728292T>C
More... 		07/10/2021 intron variant benign CLN8-Related Neuronal Ceroid-Lipofuscinosis; EPILEPSY, PROGRESSIVE, WITH MENTAL RETARDATION; none provided; Northern epilepsy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CLN8
Accession:XM_005266021
Location:INTRON

Gene Symbol:CLN8
Accession:XM_047421512
Location:INTRON

Gene Symbol:CLN8
Accession:NM_018941
Location:INTRON

Gene Symbol:CLN8
Accession:XM_005266022
Location:INTRON

Gene Symbol:CLN8
Accession:XM_011534747
Location:INTRON

Gene Symbol:CLN8
Accession:XM_047421513
Location:INTRON

Gene Symbol:CLN8
Accession:XM_011534746
Location:INTRON

Gene Symbol:CLN8
Accession:XM_005266023
Location:INTRON

Gene Symbol:CLN8
Accession:XM_011534745
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000839632 CLINVAR
  RCV001543991 CLINVAR
  RCV001543992 CLINVAR
dbSNP (RS) rs12546965 CLINVAR
MedGen C1838570 CLINVAR
  C1864923 CLINVAR
  C3661900 CLINVAR
NCBI Gene CLN8 CLINVAR
OMIM 600143 CLINVAR
  607837 CLINVAR
  610003 CLINVAR