RGD:8643670 Rat Genome Database

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Variant: RGD:8643670 -  Homo sapiens

RGD ID: 8643670
RS ID: rs66521141
ClinVar ID: CV103011
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OTC  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 38,226,620
GRCh38 X 38,367,367
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008471.1:g.19885G>T
NC_000023.11:g.38367367G>T
NC_000023.10:g.38226620G>T
NP_000522.3:p.Glu52Ter
More... 		07/23/2022 nonsense|stop-gain pathogenic none provided; Ornithine Carbamoyltransferase Deficiency Disease; Ornithine transcarbamylase deficiency; ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:OTC
Accession:NM_000531
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLFNLRILLNNAAFRNGHNFMVRNFRCGQPLQNKVQLKGRDLLTLKNFTGE*IKYMLWLSADLKFRIKQKGEYLPLLQGK
SLGMIFEKRSTRTRLSTETGFALLGGHPCFLTTQDIHLGVNESLTDTARVLSSMADAVLARVYKQSDLDTLAKEASIPII
NGLSDLYHPIQILADYLTLQEHYSSLKGLTLSWIGDGNNILHSIMMSAAKFGMHLQAATPKGYEPDASVTKLAEQYAKEN
GTKLLLTNDPLEAAHGGNVLITDTWISMGQEEEKKKRLQAFQGYQVTMKTAKVAASDWTFLHCLPRKPEEVDDEVFYSPR
SLVFPEAENRKWTIMAVMVSLLTDYSPQLQKPKF*

Gene Symbol:OTC
Accession:NM_001407092
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLFNLRILLNNAAFRNGHNFMVRNFRCGQPLQNKVQLKGRDLLTLKNFTGE*IKYMLWLSADLKFRIKQKGEYLPLLQGK
SLGMIFEKRSTRTRLSTETGFALLGGHPCFLTTQDIHLGVNESLTDTARVLSSMADAVLARVYKQSDLDTLAKEASIPII
NGLSDLYHPIQILADYLTLQEHYSSLKGLTLSWIGDGNNILHSIMMSAAKFGMHLQAATPKGYEPDASVTKLAEQYAKEN
GTKLLLTNDPLEAAHGGNVLITDTWISMGQEEEKKKRLQAFQGYQVTMKTAKVAASDWTFLHCLPRKPEEVDDEVFYSPR
SLVFPEAENRKWTIMAVMVSLLTDYSPQLQKPKF*

Gene Symbol:OTC
Accession:XM_017029556
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLFNLRILLNNAAFRNGHNFMVRNFRCGQPLQNKVQLKGRDLLTLKNFTGE*IKYMLWLSADLKFRIKQKGEYLPLLQGK
SLGMIFEKRSTRTRLSTETGFALLGGHPCFLTTQDIHLGVNESLTDTARVLSSMADAVLARVYKQSDLDTLAKEASIPII
NGLSDLYHPIQILADYLTLQEHYSSLKGLTLSWIGDGNNILHSIMMSAAKFGMHLQAATPKGYEPDASVTKLAEQYAKEN
GTKLLLTNDPLEAAHGGNVLITDTWISMGQEEEKKKRLQAFQGYQVTMKILKKTNMTATYNSQKVVLSPSL*
Variant Samples
Additional References at PubMed
PMID:10946359   PMID:16786505   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000083348 CLINVAR
  RCV002514458 CLINVAR
dbSNP (RS) rs66521141 CLINVAR
MedGen C0268542 CLINVAR
  C3661900 CLINVAR
NCBI Gene OTC CLINVAR
OMIM 300461 CLINVAR
  311250 CLINVAR
SNOMED CT 80908008 CLINVAR