RGD:8643663 Rat Genome Database

RGD ID:

8643663

RS ID:

rs67939655

ClinVar ID:

CV103004

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

OTC

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	X	38,226,606
GRCh38	X	38,367,353

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NG_008471.1:g.19871A>C NC_000023.11:g.38367353A>C NC_000023.10:g.38226606A>C NP_000522.3:p.Asn47Thr More...	08/10/2022	missense\|missense variant	pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	all ages\|childhood\|neonatal	1-9 / 100 000	AllHighlyPenetrant; 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_001407092
Location:	EXON
Amino Acid Prediction:	N to T (nonsynonymous)
Amino Acid Position:	47

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLFNLRILLNNAAFRNGHNFMVRNFRCGQPLQNKVQLKGRDLLTLKTFTGEEIKYMLWLSADLKFRIKQKGEYLPLLQGK SLGMIFEKRSTRTRLSTETGFALLGGHPCFLTTQDIHLGVNESLTDTARVLSSMADAVLARVYKQSDLDTLAKEASIPII NGLSDLYHPIQILADYLTLQEHYSSLKGLTLSWIGDGNNILHSIMMSAAKFGMHLQAATPKGYEPDASVTKLAEQYAKEN GTKLLLTNDPLEAAHGGNVLITDTWISMGQEEEKKKRLQAFQGYQVTMKTAKVAASDWTFLHCLPRKPEEVDDEVFYSPR SLVFPEAENRKWTIMAVMVSLLTDYSPQLQKPKF*

Gene Symbol:	OTC
Accession:	XM_017029556
Location:	EXON
Amino Acid Prediction:	N to T (nonsynonymous)
Amino Acid Position:	47

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLFNLRILLNNAAFRNGHNFMVRNFRCGQPLQNKVQLKGRDLLTLKTFTGEEIKYMLWLSADLKFRIKQKGEYLPLLQGK SLGMIFEKRSTRTRLSTETGFALLGGHPCFLTTQDIHLGVNESLTDTARVLSSMADAVLARVYKQSDLDTLAKEASIPII NGLSDLYHPIQILADYLTLQEHYSSLKGLTLSWIGDGNNILHSIMMSAAKFGMHLQAATPKGYEPDASVTKLAEQYAKEN GTKLLLTNDPLEAAHGGNVLITDTWISMGQEEEKKKRLQAFQGYQVTMKILKKTNMTATYNSQKVVLSPSL*

Gene Symbol:	OTC
Accession:	NM_000531
Location:	EXON
Amino Acid Prediction:	N to T (nonsynonymous)
Amino Acid Position:	47

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLFNLRILLNNAAFRNGHNFMVRNFRCGQPLQNKVQLKGRDLLTLKTFTGEEIKYMLWLSADLKFRIKQKGEYLPLLQGK SLGMIFEKRSTRTRLSTETGFALLGGHPCFLTTQDIHLGVNESLTDTARVLSSMADAVLARVYKQSDLDTLAKEASIPII NGLSDLYHPIQILADYLTLQEHYSSLKGLTLSWIGDGNNILHSIMMSAAKFGMHLQAATPKGYEPDASVTKLAEQYAKEN GTKLLLTNDPLEAAHGGNVLITDTWISMGQEEEKKKRLQAFQGYQVTMKTAKVAASDWTFLHCLPRKPEEVDDEVFYSPR SLVFPEAENRKWTIMAVMVSLLTDYSPQLQKPKF*

Variant Samples

Additional References at PubMed

PMID:16786505	PMID:24033266	PMID:25741868	PMID:28492532

Additional Information

External Database Links

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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