RGD:11623413 Rat Genome Database

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Variant: RGD:11623413 -  Homo sapiens

RGD ID: 11623413
RS ID: rs550169691
ClinVar ID: CV325408
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC37A4  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 118,901,319
GRCh38 11 119,030,609
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_187t1:c.-573C>G
LRG_187:g.5298C>G
NG_013331.1:g.5298C>G
NC_000011.10:g.119030609G>C
More... 		01/13/2018 2kb upstream variant|5 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC37A4
Accession:NM_001164277
Location:5UTRS;EXON

Gene Symbol:SLC37A4
Accession:NM_001164278
Location:5UTRS;EXON

Gene Symbol:SLC37A4
Accession:NM_001164279
Location:5UTRS;INTRON

Gene Symbol:SLC37A4
Accession:NM_001467
Location:5UTRS;INTRON

Gene Symbol:SLC37A4
Accession:NM_001164280
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000372332 CLINVAR
dbSNP (RS) rs550169691 CLINVAR
MedGen C0017920 CLINVAR
NCBI Gene SLC37A4 CLINVAR
OMIM 602671 CLINVAR
SNOMED CT 7265005 CLINVAR