RGD:28907527 Rat Genome Database

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Variant: RGD:28907527 -  Homo sapiens

RGD ID: 28907527
RS ID: rs1943684789
ClinVar ID: CV867117
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC37A4  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 118,900,178
GRCh38 11 119,029,468
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_187t1:c.-99A>G
NM_001164279.2:c.-248A>G
NM_001164278.2:c.-99A>G
NM_001164280.2:c.-99A>G
More... 		01/13/2018 5 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC37A4
Accession:NM_001164280
Location:5UTRS;EXON

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

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

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

Gene Symbol:SLC37A4
Accession:NM_001164277
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001107268 CLINVAR
dbSNP (RS) rs1943684789 CLINVAR
MedGen C0017920 CLINVAR
NCBI Gene SLC37A4 CLINVAR
OMIM 602671 CLINVAR
SNOMED CT 7265005 CLINVAR