RGD:8600340 Rat Genome Database

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Variant: RGD:8600340 -  Homo sapiens

RGD ID: 8600340
RS ID: rs267606767
ClinVar ID: CV31844
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DHODH  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 72,055,110
GRCh38 16 72,021,211
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
NG_016271.1:g.17468G>A
NC_000016.10:g.72021211G>A
NC_000016.9:g.72055110G>A
NP_001352.2:p.Gly202Asp
More... 		05/25/2011 missense|missense variant pathogenic antenatal|neonatal/infancy <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:NM_001361
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 202
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWRHLKKRAQDAVIILGGGGLLFASYLMATGDERFYAEHLMPTLQGLLDPESAHRLAVRFTSLGLLPRARFQDSDMLEV
RVLGHKFRNPVGIAAGFDKHGEAVDGLYKMGFGFVEIGSVTPKPQEGNPRPRVFRLPEDQAVINRYGFNSHGLSVVEHRL
RARQQKQAKLTEDGLPLGVNLGKNKTSVDAAEDYAEGVRVLDPLADYLVVNVSSPNTAGLRSLQGKAELRRLLTKVLQER
DGLRRVHRPAVLVKIAPDLTSQDKEDIASVVKELGIDGLIVTNTTVSRPAGLQGALRSETGGLSGKPLRDLSTQTIREMY
ALTQGRVPIIGVGGVSSGQDALEKIRAGASLVQLYTALTFWGPPVVGKVKRELEALLKEQGFGGVTDAIGADHRR*

Gene Symbol:DHODH
Accession:XM_047433674
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 174
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATGDERFYAEHLMPTLQGLLDPESAHRLAVRFTSLGLLPRARFQDSDMLEVRVLGHKFRNPVGIAAGFDKHGEAVDGLY
KMGFGFVEIGSVTPKPQEGNPRPRVFRLPEDQAVINRYGFNSHGLSVVEHRLRARQQKQAKLTEDGLPLGVNLGKNKTSV
DAAEDYAEGVRVLDPLADYLVVNVSSPNTAGLRSLQGKAELRRLLTKVLQERDGLRRVHRPAVLVKIAPDLTSQDKEDIA
SVVKELGIDGLIVTNTTVSRPAGLQGALRSETGGLSGKPLRDLSTQTIREMYALTQGRVPIIGVGGVSSGQDALEKIRAG
ASLVQLYTALTFWGPPVVGKVKRELEALLKEQGFGGVTDAIGADHRR*

Gene Symbol:DHODH
Accession:XM_005255829
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 59
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWYGFNSHGLSVVEHRLRARQQKQAKLTEDGLPLGVNLGKNKTSVDAAEDYAEGVRVLDPLADYLVVNVSSPNTAGLRSL
QGKAELRRLLTKVLQERDGLRRVHRPAVLVKIAPDLTSQDKEDIASVVKELGIDGLIVTNTTVSRPAGLQGALRSETGGL
SGKPLRDLSTQTIREMYALTQGRVPIIGVGGVSSGQDALEKIRAGASLVQLYTALTFWGPPVVGKVKRELEALLKEQGFG
GVTDAIGADHRR*
Variant Samples
Additional References at PubMed
PMID:19915526  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000018296 CLINVAR
dbSNP (RS) rs267606767 CLINVAR
MedGen C0265257 CLINVAR
NCBI Gene DHODH CLINVAR
OMIM 126064 CLINVAR
  263750 CLINVAR
OMIM Allele 126064.0006 CLINVAR
SNOMED CT 66038001 CLINVAR