RGD:11615600 Rat Genome Database

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Variant: RGD:11615600 -  Homo sapiens

RGD ID: 11615600
RS ID: rs370049658
ClinVar ID: CV342307
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DHODH  LOC126862390  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 72,058,112
GRCh38 16 72,024,213
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_001361.4:c.*14C>T
NG_016271.1:g.20470C>T
NC_000016.10:g.72024213C>T
NC_000016.9:g.72058112C>T
More... 		01/12/2018 3 prime utr variant likely benign|uncertain significance antenatal <1 / 1 000 000 Genee-Wiedemann acrofacial dysostosis; Genee-Wiedemann syndrome; POADS syndrome; Postaxial acrofacial dysostosis (POADS) syndrome; Wildervanck-Smith syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DHODH
Accession:XM_005255829
Location:3UTRS;EXON

Gene Symbol:DHODH
Accession:XM_047433674
Location:3UTRS;EXON

Gene Symbol:DHODH
Accession:NM_001361
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000287502 CLINVAR
dbSNP (RS) rs370049658 CLINVAR
MedGen C0265257 CLINVAR
NCBI Gene DHODH CLINVAR
  LOC126862390 CLINVAR
OMIM 126064 CLINVAR
  263750 CLINVAR
SNOMED CT 66038001 CLINVAR