RGD:13609264 Rat Genome Database

Variant: RGD:13609264 - Homo sapiens

RGD ID:

13609264

RS ID:

rs760868571

ClinVar ID:

CV533519

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ITPA

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	20	3,194,631
GRCh38	20	3,213,985

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_181493.4:c.139G>T NM_001324240.2:c.190G>T NM_033453.3:c.190G>T NP_001311169.1:p.Val64Leu More...	08/20/2018	5 prime utr variant\|missense variant	uncertain significance	INOSINE TRIPHOSPHATE PYROPHOSPHOHYDROLASE DEFICIENCY

Disease Annotations Click to see Annotation Detail View

Inosine Triphosphatase Deficiency (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	ITPA
Accession:	NM_001324236
Location:	5UTRS;EXON

Gene Symbol:	ITPA
Accession:	NM_001351739
Location:	5UTRS;EXON

Gene Symbol:	ITPA
Accession:	NM_001324237
Location:	5UTRS;EXON

Gene Symbol:	ITPA
Accession:	NM_001324238
Location:	5UTRS;EXON

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	V to L (nonsynonymous)
Amino Acid Position:	64

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAASLVGKKIVFVTGNAKKLEEVVQILGDKFPCTLVAQKIDLPEYQGEPDEISIQKCQEAVRQLQGPVLVEDTCLCFNAL GGLPGPYIKWFLEKLKPEGLHQLLAGFEDKSAYALCTFALSTGDPSQPVRLFRGRTSERCHSSRHLACPRSSGAGSWHPE AARTLAGTPAFSLMDMSRRTQRCLRRRRTLSPIASGPCWSCRSTLAVWQLDFCSWRRPLRPGIWGGLAQNLPHRAGTP*

Gene Symbol:	ITPA
Accession:	XM_011529234
Location:	EXON
Amino Acid Prediction:	V to L (nonsynonymous)
Amino Acid Position:	64

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAASLVGKKIVFVTGNAKKLEEVVQILGDKFPCTLVAQKIDLPEYQGEPDEISIQKCQEAVRQLQGPVLVEDTCLCFNAL GGLPGPYIKWFLEKLKPEGLHQLLAGFEDKSAYALCTFALSTGDPSQPVRLFRGRTSGNSWLTAPEA*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	V to L (nonsynonymous)
Amino Acid Position:	106

Amino Acid Sequence (Calculated using NCBI transcript definition)
MHHHAQLILYFLVEMGFLHVGQAGFKLLTSGDPLASASQSAGITGVSHRAFPHFDEHQNGLRSLVVQILGDKFPCTLVAQ KIDLPEYQGEPDEISIQKCQEAVRQLQGPVLVEDTCLCFNALGGLPGPYIKWFLEKLKPEGLHQLLAGFEDKSAYALCTF ALSTGDPSQPVRLFRGRTSGRIVAPRGCQDFGWDPCFQPDGYEQTYAEMPKAEKNAVSHRFRALLELQEYFGSLAA*

Gene Symbol:	ITPA
Accession:	NM_001324240
Location:	EXON
Amino Acid Prediction:	V to L (nonsynonymous)
Amino Acid Position:	64

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAASLVGKKIVFVTGNAKKLEEVVQILGDKFPCTLVAQKIDLPEYQGEPDEISIQKCQEAVRQLQGPVLVEDTCLCFNAL GGLPGPYIKWFLEKLKPEGLHQLLAGFEDKSAYALCTFALSTGDPSQPVRLFRGRTSF*

Gene Symbol:	ITPA
Accession:	XM_047440139
Location:	EXON
Amino Acid Prediction:	V to L (nonsynonymous)
Amino Acid Position:	106

Amino Acid Sequence (Calculated using NCBI transcript definition)
MHHHAQLILYFLVEMGFLHVGQAGFKLLTSGDPLASASQSAGITGVSHRAFPHFDEHQNGLRSLVVQILGDKFPCTLVAQ KIDLPEYQGEPDEISIQKCQEAVRQLQGPVLVEDTCLCFNALGGLPGPYIKWFLEKLKPEGLHQLLAGFEDKSAYALCTF ALSTGDPSQPVRLFRGRTSERCHSSRHLACPRSSGAGSWHPEAARTLAGTPAFSLMDMSRRTQRCLRRRRTLSPIASGPC WSCRSTLAVWQLDFCSWRRPLRPGIWGGLAQNLPHRAGTP*

Gene Symbol:	ITPA
Accession:	NM_001424408
Location:	EXON
Amino Acid Prediction:	V to L (nonsynonymous)
Amino Acid Position:	64

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAASLVGKKIVFVTGNAKKLEEVVQILGDKFPCTLVAQKIDLPEYQGEPDEISIQKCQEAVRQLQGPVLVEDTCLCFNAL GGLPGPYIKWFLEKLKPEGLHQLLAGFEDKSAYALCTFALSTGDPSQPVRLFRGRTSERCHSSRHLACPRSSGAGSWHPE AARTLAGTPAFSLMDMSRRTQRCLRRRRTLSPIASGPCWSCRSTLAVWQLDFCSWRRPLRPGIWGGLAQNLPHRAGTP*

Gene Symbol:	ITPA
Accession:	XM_006723565
Location:	EXON
Amino Acid Prediction:	V to L (nonsynonymous)
Amino Acid Position:	23

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAASLVGKKIVFVTGNAKKLEELQGPVLVEDTCLCFNALGGLPGPYIKWFLEKLKPEGLHQLLAGFEDKSAYALCTFALS TGDPSQPVRLFRGRTSERCHSSRHLACPRSSGAGSWHPEAARTLAGTPAFSLMDMSRRTQRCLRRRRTLSPIASGPCWSC RSTLAVWQLDFCSWRRPLRPGIWGGLAQNLPHRAGTP*

Gene Symbol:	ITPA
Accession:	NM_181493
Location:	EXON
Amino Acid Prediction:	V to L (nonsynonymous)
Amino Acid Position:	47

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAASLVVQILGDKFPCTLVAQKIDLPEYQGEPDEISIQKCQEAVRQLQGPVLVEDTCLCFNALGGLPGPYIKWFLEKLKP EGLHQLLAGFEDKSAYALCTFALSTGDPSQPVRLFRGRTSGRIVAPRGCQDFGWDPCFQPDGYEQTYAEMPKAEKNAVSH RFRALLELQEYFGSLAA*

Gene Symbol:	ITPA
Accession:	NM_033453
Location:	EXON
Amino Acid Prediction:	V to L (nonsynonymous)
Amino Acid Position:	64

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAASLVGKKIVFVTGNAKKLEEVVQILGDKFPCTLVAQKIDLPEYQGEPDEISIQKCQEAVRQLQGPVLVEDTCLCFNAL GGLPGPYIKWFLEKLKPEGLHQLLAGFEDKSAYALCTFALSTGDPSQPVRLFRGRTSGRIVAPRGCQDFGWDPCFQPDGY EQTYAEMPKAEKNAVSHRFRALLELQEYFGSLAA*

Gene Symbol:	ITPA
Accession:	NM_001424409
Location:	EXON
Amino Acid Prediction:	V to L (nonsynonymous)
Amino Acid Position:	106

Amino Acid Sequence (Calculated using NCBI transcript definition)
MHHHAQLILYFLVEMGFLHVGQAGFKLLTSGDPLASASQSAGITGVSHRAFPHFDEHQNGLRSLVVQILGDKFPCTLVAQ KIDLPEYQGEPDEISIQKCQEAVRQLQGPVLVEDTCLCFNALGGLPGPYIKWFLEKLKPEGLHQLLAGFEDKSAYALCTF ALSTGDPSQPVRLFRGRTSGRIVAPRGCQDFGWDPCFQPDGYEQTYAEMPKAEKNAVSHRFRALLELQEYFGSLAA*

Gene Symbol:	ITPA
Accession:	NM_001267623
Location:	EXON
Amino Acid Prediction:	V to L (nonsynonymous)
Amino Acid Position:	23

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAASLVGKKIVFVTGNAKKLEELQGPVLVEDTCLCFNALGGLPGPYIKWFLEKLKPEGLHQLLAGFEDKSAYALCTFALS TGDPSQPVRLFRGRTSGRIVAPRGCQDFGWDPCFQPDGYEQTYAEMPKAEKNAVSHRFRALLELQEYFGSLAA*

Gene Symbol:	ITPA
Accession:	NR_052002
Location:	EXON;NON-CODING

Gene Symbol:	ITPA
Accession:	NR_052000
Location:	EXON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000640520	CLINVAR
dbSNP (RS)	rs760868571	CLINVAR
MedGen	C0342800	CLINVAR
NCBI Gene	ITPA	CLINVAR
OMIM	147520	CLINVAR
	613850	CLINVAR

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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Variant: RGD:13609264 - Homo sapiens

Imported Disease Annotations - ClinVar