RGD:12913219 Rat Genome Database

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Variant: RGD:12913219 -  Homo sapiens

RGD ID: 12913219
RS ID: rs1131691970
ClinVar ID: CV421190
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GLUL  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 182,357,872
GRCh38 1 182,388,737
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001033056.4:c.1A>T
NM_002065.7:c.1A>T
NP_002056.2:p.Met1Leu
NG_013347.2:g.8470A>T
More... 		08/09/2016 initiatior codon variant|initiator_codon_variant|missense variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:GLUL
Accession:NM_001033044
Location:EXON

Gene Symbol:GLUL
Accession:NM_001033056
Location:EXON

Gene Symbol:GLUL
Accession:NM_002065
Location:EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000493544 CLINVAR
  RCV003884568 CLINVAR
dbSNP (RS) rs1131691970 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GLUL CLINVAR
OMIM 138290 CLINVAR