RGD:11621215 Rat Genome Database

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Variant: RGD:11621215 -  Homo sapiens

RGD ID: 11621215
RS ID: rs376142632
ClinVar ID: CV336015
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DHODH  LOC126862390  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 72,057,408
GRCh38 16 72,023,509
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.19766A>T
NC_000016.10:g.72023509A>T
NC_000016.9:g.72057408A>T
NP_001352.2:p.Ser337Cys
More... 		06/14/2016 missense variant 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_047433674
Location:EXON
Amino Acid Prediction: S to C (nonsynonymous)
Amino Acid Position: 309
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATGDERFYAEHLMPTLQGLLDPESAHRLAVRFTSLGLLPRARFQDSDMLEVRVLGHKFRNPVGIAAGFDKHGEAVDGLY
KMGFGFVEIGSVTPKPQEGNPRPRVFRLPEDQAVINRYGFNSHGLSVVEHRLRARQQKQAKLTEDGLPLGVNLGKNKTSV
DAAEDYAEGVRVLGPLADYLVVNVSSPNTAGLRSLQGKAELRRLLTKVLQERDGLRRVHRPAVLVKIAPDLTSQDKEDIA
SVVKELGIDGLIVTNTTVSRPAGLQGALRSETGGLSGKPLRDLSTQTIREMYALTQGRVPIIGVGGVSCGQDALEKIRAG
ASLVQLYTALTFWGPPVVGKVKRELEALLKEQGFGGVTDAIGADHRR*

Gene Symbol:DHODH
Accession:NM_001361
Location:EXON
Amino Acid Prediction: S to C (nonsynonymous)
Amino Acid Position: 337
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWRHLKKRAQDAVIILGGGGLLFASYLMATGDERFYAEHLMPTLQGLLDPESAHRLAVRFTSLGLLPRARFQDSDMLEV
RVLGHKFRNPVGIAAGFDKHGEAVDGLYKMGFGFVEIGSVTPKPQEGNPRPRVFRLPEDQAVINRYGFNSHGLSVVEHRL
RARQQKQAKLTEDGLPLGVNLGKNKTSVDAAEDYAEGVRVLGPLADYLVVNVSSPNTAGLRSLQGKAELRRLLTKVLQER
DGLRRVHRPAVLVKIAPDLTSQDKEDIASVVKELGIDGLIVTNTTVSRPAGLQGALRSETGGLSGKPLRDLSTQTIREMY
ALTQGRVPIIGVGGVSCGQDALEKIRAGASLVQLYTALTFWGPPVVGKVKRELEALLKEQGFGGVTDAIGADHRR*

Gene Symbol:DHODH
Accession:XM_005255829
Location:EXON
Amino Acid Prediction: S to C (nonsynonymous)
Amino Acid Position: 194
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWYGFNSHGLSVVEHRLRARQQKQAKLTEDGLPLGVNLGKNKTSVDAAEDYAEGVRVLGPLADYLVVNVSSPNTAGLRSL
QGKAELRRLLTKVLQERDGLRRVHRPAVLVKIAPDLTSQDKEDIASVVKELGIDGLIVTNTTVSRPAGLQGALRSETGGL
SGKPLRDLSTQTIREMYALTQGRVPIIGVGGVSCGQDALEKIRAGASLVQLYTALTFWGPPVVGKVKRELEALLKEQGFG
GVTDAIGADHRR*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000345987 CLINVAR
  RCV003352834 CLINVAR
dbSNP (RS) rs376142632 CLINVAR
MedGen C0265257 CLINVAR
  C0950123 CLINVAR
NCBI Gene DHODH CLINVAR
  LOC126862390 CLINVAR
OMIM 126064 CLINVAR
  263750 CLINVAR
SNOMED CT 66038001 CLINVAR