RGD:12838700 Rat Genome Database

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Variant: RGD:12838700 -  Homo sapiens

RGD ID: 12838700
RS ID: rs551042352
ClinVar ID: CV370204
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLN8  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 1,728,747
GRCh38 8 1,780,581
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_691t1:c.*14G>T
LRG_691:g.29804G>T
NG_008656.2:g.29804G>T
NC_000008.11:g.1780581G>T
More... 		01/15/2016 3 prime utr variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CLN8
Accession:XM_005266022
Location:3UTRS;EXON

Gene Symbol:CLN8
Accession:XM_047421512
Location:3UTRS;EXON

Gene Symbol:CLN8
Accession:XM_011534746
Location:3UTRS;EXON

Gene Symbol:CLN8
Accession:XM_011534745
Location:3UTRS;EXON

Gene Symbol:CLN8
Accession:NM_018941
Location:3UTRS;EXON

Gene Symbol:CLN8
Accession:XM_005266021
Location:3UTRS;EXON

Gene Symbol:CLN8
Accession:XM_005266023
Location:3UTRS;EXON

Gene Symbol:CLN8
Accession:XM_011534747
Location:INTRON

Gene Symbol:CLN8
Accession:XM_047421513
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000427431 CLINVAR
dbSNP (RS) rs551042352 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CLN8 CLINVAR
OMIM 607837 CLINVAR