RGD:13822448 Rat Genome Database

Variant: RGD:13822448 - Homo sapiens

RGD ID:

13822448

RS ID:

rs773098808

ClinVar ID:

CV575272

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ADSL LOC127896336

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	22	40,742,598
GRCh38	22	40,346,594

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_001317923.2:c.-102C>A NM_001123378.3:c.36C>A NM_001363840.3:c.36C>A NR_134256.2:n.95C>A More...	02/10/2018	5 prime utr variant\|missense variant	uncertain significance

Disease Annotations Click to see Annotation Detail View

adenylosuccinase lyase deficiency (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	ADSL
Accession:	NM_001317923
Location:	5UTRS;EXON

Gene Symbol:	ADSL
Accession:	XM_017028636
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	12

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGGDHGSPDRYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDEQIQEMKSNLENIDFKMAAEE EKRLRHDVMAHVHTFGHCCPKAAGIIHLGATSCYVGDNTLARVISRLADFAKERASLPTLGFTHFQPAQLTTVGKRCCLW IQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQLDKMVTEKAGFKRAFIITGQTYTRKVDIEVLSVL ASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLVMDPLQTASVQWFERTLDDSA NRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAMVKAGGSRQDCHEKIRVLSQQAASVVK QEGGDNDLIERIQVDAYFSPIHSQLDHLLDPSSFTGRASQQVQRFLEEEVYPLLKPYESVMKCKQVPLDKNVVCVIPCCI SNSKSTSDTWQLGSLPASATAPDFLVAWIYS*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	12

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGGDHGSPDRYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDEQIQEMKSNLENIDFKMAAEE EKRLRHDVMAHVHTFGHCCPKAAGIIHLGATSCYVGDNTLARVISRLADFAKERASLPTLGFTHFQPAQLTTVGKRCCLW IQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQLDKMVTEKAGFKRAFIITGQTYTRKVDIEVLSVL ASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLVMDPLQTASVQWFERTLDDSA NRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAMVKAGGSRQDCHEKIRVLSQQAASVVK QEGGDNDLIERIQVDAYFSPIHSQLDHLLDPSSFTGRASQQVQRFLEEEVYPLLKPYESVMKVKAELCL*

Gene Symbol:	ADSL
Accession:	NM_001410816
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	12

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGGDHGSPDRYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDEQIQEMKSNLENIDFKMAAEE EKRLRHDVMAHVHTFGHCCPKAAGIIHLGATSCYVGDNTDLIILRNALDLLLPKLARVISRLADFAKERASLPTLGFTHF QPAQLTTVGKRCCLWIQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQLDKMVTEKAGFKRAFIITG QTYTRKVDIEVLSVLASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLVMDPLQ TASVQWFERTLDDSANRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAMVKAGGSRQVQR FLEEEVYPLLKPYESVMKCKQVPLDKNVVCVIPCCISNSKSTSDTWQLGSLPASATAPDFLVAWIYS*

Gene Symbol:	ADSL
Accession:	NM_000026
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	12

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGGDHGSPDRYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDEQIQEMKSNLENIDFKMAAEE EKRLRHDVMAHVHTFGHCCPKAAGIIHLGATSCYVGDNTDLIILRNALDLLLPKLARVISRLADFAKERASLPTLGFTHF QPAQLTTVGKRCCLWIQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQLDKMVTEKAGFKRAFIITG QTYTRKVDIEVLSVLASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLVMDPLQ TASVQWFERTLDDSANRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAMVKAGGSRQDCH EKIRVLSQQAASVVKQEGGDNDLIERIQVDAYFSPIHSQLDHLLDPSSFTGRASQQVQRFLEEEVYPLLKPYESVMKVKA ELCL*

Gene Symbol:	ADSL
Accession:	NM_001363840
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	12

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGGDHGSPDRYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDEQIQEMKSNLENIDFKMAAEE EKRLRHDVMAHVHTFGHCCPKAAGIIHLGATSCYVGDNTDLIILRNALDLLLPKLARVISRLADFAKERASLPTLGFTHF QPAQLTTVGKRCCLWIQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQLDKMVTEKAGFKRAFIITG QTYTRKVDIEVLSVLASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLVMDPLQ TASVQWFERTLDDSANRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAMVKAGGSRQDCH EKIRVLSQQAASVVKQEGGDNDLIERIQVDAYFSPIHSQLDHLLDPSSFTGRASQQVQRFLEEEVYPLLKPYESVMKVSF *

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	12

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGGDHGSPDRYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDEQIQEMKSNLENIDFKMAAEE EKRLRHDVMAHVHTFGHCCPKAAGIIHLGATSCYVGDNTDLIILRNALDLLLPKLARVISRLADFAKERASLPTLGFTHF QPAQLTTVGKRCCLWIQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQLDKMVTEKAGFKRAFIITG QTYTRKVDIEVLSVLASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLVMDPLQ TASVQWFERTLDDSANRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAMVKAGGSRQDCH EKIRVLSQQAASVVKQEGGDNDLIERIQVDAYFSPIHSQLDHLLDPSSFTGRASQQVQRFLEEEVYPLLKPYESVMKCKQ VPLDKNVVCVIPCCISNSKSTSDTWQLGSLPASATAPDFLVAWIYS*

Gene Symbol:	ADSL
Accession:	NM_001410812
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	12

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGGDHGSPDRYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDEQIQEMKSNLENIDFKMAAEE EKRLRHDVMAHVHTFGHCCPKAAGIIHLGATSCYVGDNTDLIILRNALDLLLPKLARVISRLADFAKERASLPTLGFTHF QPAQLTTVGKRCCLWIQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQLDKMVTEKAGFKRAFIITG QTYTRKVDIEVLSVLASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLVMDPLQ TASVQWFERTLDDSANRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAMVKAGGSRQDCH EKIRVLSQQAASVVKQEGGDNDLIERIQVDAYFSPIHSQLDHLLDPSSFTGRASQQVQRFLEEEVYPLLKPYESVMKCKQ VPLDKNVVCVIPCCISNSKSTSDTWQLGSLPASATAPDFLVAWIYS*

Gene Symbol:	ADSL
Accession:	NM_001410814
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	12

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGGDHGSPDRYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDEQIQEMKSNLENIDFKMAAEE EKRLRHDVMAHVHTFGHCCPKAAGIIHLGATSCYVGDNTLARVISRLADFAKERASLPTLGFTHFQPAQLTTVGKRCCLW IQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQLDKMVTEKAGFKRAFIITGQTYTRKVDIEVLSVL ASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLVMDPLQTASVQWFERTLDDSA NRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAMVKAGGSRQDCHEKIRVLSQQAASVVK QEGGDNDLIERIQVDAYFSPIHSQLDHLLDPSSFTGRASQQVQRFLEEEVYPLLKPYESVMKVKAELCL*

Gene Symbol:	ADSL
Accession:	NM_001123378
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	12

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGGDHGSPDRYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDEQIQEMKSNLENIDFKMAAEE EKRLRHDVMAHVHTFGHCCPKAAGIIHLGATSCYVGDNTDLIILRNALDLLLPKLARVISRLADFAKERASLPTLGFTHF QPAQLTTVGKRCCLWIQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQLDKMVTEKAGFKRAFIITG QTYTRKVDIEVLSVLASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLVMDPLQ TASVQWFERTLDDSANRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAMVKAGGSRQVQR FLEEEVYPLLKPYESVMKVKAELCL*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	12

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGGDHGSPDRYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDEQIQEMKSNLENIDFKMAAEE EKRLRHDVMAHVHTFGHCCPKAAGIIHLGATSCYVGDNTDLIILRNALDLLLPKLARVISRLADFAKERASLPTLGFTHF QPAQLTTVGKRCCLWIQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQLDKMVTEKAGFKRAFIITG QTYTRKVDIEVLSVLASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLVMDPLQ TASVQWFERTLDDSANRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAMVKAGGSRQVQR FLEEEVYPLLKPYESVMKCKQVPLDKNVVCVIPCCISNSKSTSDTWQLGSLPASATAPDFLVAWIYS*

Gene Symbol:	ADSL
Accession:	NR_134256
Location:	EXON;NON-CODING

Gene Symbol:	ADSL
Accession:	XM_047441168
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000697335	CLINVAR
dbSNP (RS)	rs773098808	CLINVAR
MedGen	C0268126	CLINVAR
NCBI Gene	ADSL	CLINVAR
OMIM	103050	CLINVAR
	608222	CLINVAR
SNOMED CT	15285008	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:13822448 - Homo sapiens

Imported Disease Annotations - ClinVar