RGD:15015203 Rat Genome Database

Variant: RGD:15015203 - Homo sapiens

RGD ID:

15015203

RS ID:

rs143508372

ClinVar ID:

CV679756

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ASL LOC127409360

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	7	65,551,777
GRCh38	7	66,086,790

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
NP_001020114.1:p.Arg191Gly NP_001020115.1:p.Arg191Gly NM_000048.4:c.571C>G NM_001024943.2:c.571C>G More...	06/17/2022	intron variant	likely pathogenic\|conflicting interpretations of pathogenicity	Arginino succinase deficiency; Argininosuccinate acidemia; Argininosuccinic acid lyase deficiency; Argininosuccinic Aciduria; ASA deficiency; ASL deficiency; Inborn error of urea synthesis, arginino succinic type; Urea cycle disorder, arginino succinase type

Disease Annotations Click to see Annotation Detail View

argininosuccinic aciduria (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Argininosuccinic aciduria (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	ASL
Accession:	NM_000048
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	191

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASESGKLWGGRFVGAVDPIMEKFNASIAYDRHLWEVDVQGSKAYSRGLEKAGLLTKAEMDQILHGLDKVAEEWAQGTFK LNSNDEDIHTANERRLKELIGATAGKLHTGRSRNDQVVTDLRLWMRQTCSTLSGLLWELIRTMVDRAEAERDVLFPGYTH LQRAQPIRWSHWILSHAVALTRDSERLLEVGKRINVLPLGSGAIAGNPLGVDRELLRAELNFGAITLNSMDATSERDFVA EFLFWASLCMTHLSRMAEDLILYCTKEFSFVQLSDAYSTGSSLMPQKKNPDSLELIRSKAGRVFGRCAGLLMTLKGLPST YNKDLQEDKEAVFEVSDTMSAVLQVATGVISTLQIHQENMGQALSPDMLATDLAYYLVRKGMPFRQAHEASGKAVFMAET KGVALNQLSLQELQTISPLFSGDVICVWDYGHSVEQYGALGGTARSSVDWQIRQVRALLQAQQA*

Gene Symbol:	ASL
Accession:	NM_001024943
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	191

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASESGKLWGGRFVGAVDPIMEKFNASIAYDRHLWEVDVQGSKAYSRGLEKAGLLTKAEMDQILHGLDKVAEEWAQGTFK LNSNDEDIHTANERRLKELIGATAGKLHTGRSRNDQVVTDLRLWMRQTCSTLSGLLWELIRTMVDRAEAERDVLFPGYTH LQRAQPIRWSHWILSHAVALTRDSERLLEVGKRINVLPLGSGAIAGNPLGVDRELLRAELNFGAITLNSMDATSERDFVA EFLFWASLCMTHLSRMAEDLILYCTKEFSFVQLSDAYSTGSSLMPQKKNPDSLELIRSKAGRVFGRCAGLLMTLKGLPST YNKDLQEDKEAVFEVSDTMSAVLQVATGVISTLQIHQENMGQALSPDMLATDLAYYLVRKGMPFRQAHEASGKAVFMAET KGVALNQLSLQELQTISPLFSGDVICVWDYGHSVEQYGALGGTARSSVDWQIRQVRALLQAQQA*

Gene Symbol:	ASL
Accession:	NM_001024944
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	191

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASESGKLWGGRFVGAVDPIMEKFNASIAYDRHLWEVDVQGSKAYSRGLEKAGLLTKAEMDQILHGLDKVAEEWAQGTFK LNSNDEDIHTANERRLKELIGATAGKLHTGRSRNDQVVTDLRLWMRQTCSTLSGLLWELIRTMVDRAEAERDVLFPGYTH LQRAQPIRWSHWILSHAVALTRDSERLLEVGKRINVLPLGSGAIAGNPLGVDRELLRAELNFGAITLNSMDATSERDFVA EFLFWASLCMTHLSRMAEDLILYCTKEFSFVQLSDAYSTGSSLMPQKKNPDSLELIRSKAGRVFGREDKEAVFEVSDTMS AVLQVATGVISTLQIHQENMGQALSPDMLATDLAYYLVRKGMPFRQAHEASGKAVFMAETKGVALNQLSLQELQTISPLF SGDVICVWDYGHSVEQYGALGGTARSSVDWQIRQVRALLQAQQA*

Gene Symbol:	ASL
Accession:	NM_001024946
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:21744316	PMID:24166829	PMID:25741868	PMID:28492532	PMID:31943503

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000853343	CLINVAR
dbSNP (RS)	rs143508372	CLINVAR
MedGen	C0268547	CLINVAR
NCBI Gene	ASL	CLINVAR
OMIM	207900	CLINVAR
	608310	CLINVAR
SNOMED CT	41013004	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)

Variant: RGD:15015203 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:15015203 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar