RGD:8562100 Rat Genome Database

RGD ID:

8562100

RS ID:

rs72554308

ClinVar ID:

CV26053

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

OTC

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	X	38,226,585
GRCh38	X	38,367,332

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NG_008471.1:g.19850G>A NC_000023.11:g.38367332G>A NC_000023.10:g.38226585G>A NP_000522.3:p.Arg40His More...	05/03/2023	missense\|missense variant	pathogenic\|likely pathogenic	all ages\|childhood\|neonatal	1-9 / 100 000	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:	XM_017029556
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	40

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

Gene Symbol:	OTC
Accession:	NM_001407092
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	40

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

Gene Symbol:	OTC
Accession:	NM_000531
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	40

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

Variant Samples

Additional References at PubMed

PMID:7860066	PMID:7951259	PMID:8863155	PMID:9048915	PMID:9175746	PMID:11102556	PMID:11260212	PMID:11768581	PMID:16635166	PMID:17334707	PMID:18030415	PMID:19893582
PMID:21070677	PMID:23209112	PMID:25026867	PMID:25741868	PMID:25958381	PMID:28492532	PMID:34014569	PMID:34015158

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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