RGD:28897949 Rat Genome Database

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Variant: RGD:28897949 -  Homo sapiens

RGD ID: 28897949
RS ID: rs543638381
ClinVar ID: CV878413
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MIF4GD-DT  SLC25A19  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 73,269,231
GRCh38 17 75,273,150
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_021734.5:c.*301C>T
NC_000017.11:g.75273150G>A
NC_000017.10:g.73269231G>A
NR_036520.1:n.1852G>A
More... 		01/13/2018 3 prime utr variant likely benign Microcephaly, Amish type; THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE)
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC25A19
Accession:NM_001126121
Location:3UTRS;EXON

Gene Symbol:SLC25A19
Accession:XM_005257560
Location:3UTRS;EXON

Gene Symbol:SLC25A19
Accession:XM_017024928
Location:3UTRS;EXON

Gene Symbol:SLC25A19
Accession:XM_005257562
Location:3UTRS;EXON

Gene Symbol:SLC25A19
Accession:XM_047436514
Location:3UTRS;EXON

Gene Symbol:SLC25A19
Accession:XM_006722007
Location:3UTRS;EXON

Gene Symbol:SLC25A19
Accession:NM_001126122
Location:3UTRS;EXON

Gene Symbol:SLC25A19
Accession:XM_047436513
Location:3UTRS;EXON

Gene Symbol:SLC25A19
Accession:XM_005257559
Location:3UTRS;EXON

Gene Symbol:SLC25A19
Accession:XM_047436512
Location:3UTRS;EXON

Gene Symbol:SLC25A19
Accession:NM_021734
Location:3UTRS;EXON

Gene Symbol:SLC25A19
Accession:XM_005257561
Location:3UTRS;EXON

Gene Symbol:MIF4GD-DT
Accession:NR_036520
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001123393 CLINVAR
dbSNP (RS) rs543638381 CLINVAR
MedGen C1846648 CLINVAR
NCBI Gene 100287042 CLINVAR
  SLC25A19 CLINVAR
OMIM 606521 CLINVAR
  607196 CLINVAR