RGD:13814334 Rat Genome Database

Variant: RGD:13814334 - Homo sapiens

RGD ID:

13814334

RS ID:

rs577131769

ClinVar ID:

CV562675

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SLC22A5

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	5	131,714,091
GRCh38	5	132,378,399

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_003060.4:c.415G>A NM_003060.3:c.415G>A NP_001295051.1:p.Asp163Asn NM_001308122.2:c.487G>A More...	10/19/2022	missense variant	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	Carnitine deficiency; Carnitine Deficiency, Systemic; Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine; Carnitine plasma-membrane transporter deficiency; Carnitine transporter deficiency; CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF; Carnitine uptake defect; Decreased plasma carnitine; Primary carnitine deficiency; Systemic primary carnitine deficiency disease

Disease Annotations Click to see Annotation Detail View

carnitine palmitoyltransferase II deficiency (IAGP)

systemic primary carnitine deficiency disease (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Decreased circulating carnitine concentration (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	SLC22A5
Accession:	XM_017009778
Location:	5UTRS;INTRON

Gene Symbol:	SLC22A5
Accession:	XM_047417597
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	163

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLRLRDGREVPHS CRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTIVTEQDSGAYNAMKNRMGKKPALCLPAQWNLVC EDNWKAPLTISLFFVGVLLGSFISGQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFV LGMAIRLEDRNSWQVSSYNILYVRSVHILCIWLHGAATVCLLHPRLADAAGGADDAGGAMRGTLVVHP*

Gene Symbol:	SLC22A5
Accession:	NM_001308122
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	163

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLRLRDGREVPHS CRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTIVTEQDSGAYNAMKNRMGKKPALCLPAQWNLVC EDNWKAPLTISLFFVGVLLGSFISGQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFV LGTEILGKSVRIIFSTLGVCIFYAFGYMVLPLFAYFIRDWRMLLVALTMPGVLCVALWWFIPESPRWLISQGRFEEAEVI IRKAAKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLRTWNIRMVTIMSIMLWMTISVGYFGLSLDTPNLHGDIFVNC FLSAMVEVPAYVLAWLLLQYLPRRYSMATALFLGGSVLLFMQLVPPDLYYLATVLVMVGKFGVTAAFSMVYVYTAELYPT VVRNMGVGVSSTASRLGSILSPYFVYLGAYDRFLPYILMGSLTILTAILTLFLPESFGTPLPDTIDQMLRVKGMKHRKTP SHTRMLKDGQERPTILKSTAF*

Gene Symbol:	SLC22A5
Accession:	XM_047417598
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	163

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLRLRDGREVPHS CRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTIVTEQDSGAYNAMKNRMGKKPALCLPAQWNLVC EDNWKAPLTISLFFVGVLLGSFISGQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFV LGMAIRDRNSWQVSSYNILYVRSVHILCIWLHGAATVCLLHPRLADAAGGADDAGGAMRGTLVVHP*

Gene Symbol:	SLC22A5
Accession:	XM_047417595
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	163

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLRLRDGREVPHS CRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTIVTEQDSGAYNAMKNRMGKKPALCLPAQWNLVC EDNWKAPLTISLFFVGVLLGSFISGQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFV LGTEILGKSVRIIFSTLGVCIFYAFGYMVLPLFAYFIRDWRMLLVALTMPGVLCVALWWFIPESPRWLISQGRFEEAEVI IRKAAKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLRTWNIRMVTIMSIML*

Gene Symbol:	SLC22A5
Accession:	NM_003060
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	139

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLRLRDGREVPHS CRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTIVTEWNLVCEDNWKAPLTISLFFVGVLLGSFIS GQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFVLGTEILGKSVRIIFSTLGVCIFYA FGYMVLPLFAYFIRDWRMLLVALTMPGVLCVALWWFIPESPRWLISQGRFEEAEVIIRKAAKANGIVVPSTIFDPSELQD LSSKKQQSHNILDLLRTWNIRMVTIMSIMLWMTISVGYFGLSLDTPNLHGDIFVNCFLSAMVEVPAYVLAWLLLQYLPRR YSMATALFLGGSVLLFMQLVPPDLYYLATVLVMVGKFGVTAAFSMVYVYTAELYPTVVRNMGVGVSSTASRLGSILSPYF VYLGAYDRFLPYILMGSLTILTAILTLFLPESFGTPLPDTIDQMLRVKGMKHRKTPSHTRMLKDGQERPTILKSTAF*

Gene Symbol:	SLC22A5
Accession:	XM_047417596
Location:	INTRON

Gene Symbol:	SLC22A5
Accession:	XM_011543590
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000704966	CLINVAR
	RCV001274333	CLINVAR
dbSNP (RS)	rs577131769	CLINVAR
MedGen	C0342788	CLINVAR
	C1142132	CLINVAR
NCBI Gene	SLC22A5	CLINVAR
OMIM	212140	CLINVAR
	603377	CLINVAR
SNOMED CT	21764004	CLINVAR
	421784001	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:13814334 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:13814334 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar