RGD:13530733 Rat Genome Database

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Variant: RGD:13530733 -  Homo sapiens

RGD ID: 13530733
RS ID: rs1554448797
ClinVar ID: CV502429
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN8  LOC129662210  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 1,719,100
GRCh38 8 1,770,934
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008656.2:g.20157T>A
NC_000008.10:g.1719100T>A
LRG_691:g.20157T>A
NM_018941.4:c.-121T>A
More... 		02/01/2018 5 prime utr variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CLN8
Accession:NM_018941
Location:5UTRS;EXON

Gene Symbol:CLN8
Accession:XM_005266022
Location:5UTRS;EXON

Gene Symbol:CLN8
Accession:XM_005266023
Location:5UTRS;EXON

Gene Symbol:CLN8
Accession:XM_005266021
Location:5UTRS;EXON

Gene Symbol:CLN8
Accession:XM_011534747
Location:5UTRS;EXON

Gene Symbol:CLN8
Accession:XM_011534745
Location:5UTRS;EXON

Gene Symbol:CLN8
Accession:XM_011534746
Location:5UTRS;EXON

Gene Symbol:CLN8
Accession:XM_047421512
Location:5UTRS;EXON

Gene Symbol:CLN8
Accession:XM_047421513
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000606233 CLINVAR
dbSNP (RS) rs1554448797 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CLN8 CLINVAR
OMIM 607837 CLINVAR