RGD:13787667 Rat Genome Database

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Variant: RGD:13787667 -  Homo sapiens

RGD ID: 13787667
RS ID: rs1019246810
ClinVar ID: CV546181
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC37A4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 118,896,391
GRCh38 11 119,025,681
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_187:g.10225G>A
NG_013331.1:g.10225G>A
NC_000011.10:g.119025681C>T
NC_000011.9:g.118896391C>T
More... 		04/03/2018 intron variant likely benign Glycogen storage disease type 1B; GSD Ib
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC37A4
Accession:NM_001164278
Location:INTRON

Gene Symbol:SLC37A4
Accession:NM_001164279
Location:INTRON

Gene Symbol:SLC37A4
Accession:NM_001164280
Location:INTRON

Gene Symbol:SLC37A4
Accession:NM_001467
Location:INTRON

Gene Symbol:SLC37A4
Accession:NM_001164277
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000673578 CLINVAR
dbSNP (RS) rs1019246810 CLINVAR
MedGen C0268146 CLINVAR
NCBI Gene SLC37A4 CLINVAR
OMIM 232220 CLINVAR
  602671 CLINVAR
SNOMED CT 30102006 CLINVAR