RGD:13787212 Rat Genome Database

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Variant: RGD:13787212 -  Homo sapiens

RGD ID: 13787212
RS ID: rs923058912
ClinVar ID: CV546013
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC37A4  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 118,898,586
GRCh38 11 119,027,876
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_187t1:c.382-4A>C
LRG_187:g.8031A>C
NG_013331.1:g.8031A>C
NC_000011.10:g.119027876T>G
More... 		09/28/2020 intron variant conflicting interpretations of pathogenicity|uncertain significance Glycogen storage disease type 1B; GSD Ib
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC37A4
Accession:NM_001164279
Location:INTRON

Gene Symbol:SLC37A4
Accession:NM_001467
Location:INTRON

Gene Symbol:SLC37A4
Accession:NM_001164280
Location:INTRON

Gene Symbol:SLC37A4
Accession:NM_001164278
Location:INTRON

Gene Symbol:SLC37A4
Accession:NM_001164277
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000673333 CLINVAR
dbSNP (RS) rs923058912 CLINVAR
MedGen C0268146 CLINVAR
NCBI Gene SLC37A4 CLINVAR
OMIM 232220 CLINVAR
  602671 CLINVAR
SNOMED CT 30102006 CLINVAR