RGD:10058908 Rat Genome Database

Variant: RGD:10058908 - Homo sapiens

RGD ID:

10058908

RS ID:

rs28383480

ClinVar ID:

CV200092

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SLC22A5

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	5	131,729,368
GRCh38	5	132,393,676

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
NC_000005.10:g.132393676G>T NC_000005.9:g.131729368G>T p.G484V NP_003051.1:p.Gly484Val More...	10/03/2022	missense variant	pathogenic\|likely pathogenic\|uncertain significance	AllHighlyPenetrant; 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; none provided; Primary carnitine deficiency; Severe Myopia; Systemic primary carnitine deficiency disease

Disease Annotations Click to see Annotation Detail View

High Myopia (IAGP)

systemic primary carnitine deficiency disease (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

High myopia (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	SLC22A5
Accession:	XM_017009778
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	308

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGMQTGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFVLGTEILGKSVRIIFSTLGVCIFYAFGYMVLPLFAYFIRDW RMLLVALTMPGVLCVALWWFIPESPRWLISQGRFEEAEVIIRKAAKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLR TWNIRMVTIMSIMLWMTISVGYFGLSLDTPNLHGDIFVNCFLSAMVEVPAYVLAWLLLQYLPRRYSMATALFLGGSVLLF MQLVPPDLYYLATVLVMVGKFGVTAAFSMVYVYTAELYPTVVRNMGVGVSSTASRLGSILSPYFVYLVAYDRFLPYILMG SLTILTAILTLFLPESFGTPLPDTIDQMLRVKGMKHRKTPSHTRMLKDGQERPTILKSTAF*

Gene Symbol:	SLC22A5
Accession:	XM_047417596
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	280

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWQHLSWVWPSGWRTEILGKSVRIIFSTLGVCIFYAFGYMVLPLFAYFIRDWRMLLVALTMPGVLCVALWWFIPESPRWL ISQGRFEEAEVIIRKAAKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLRTWNIRMVTIMSIMLWMTISVGYFGLSLD TPNLHGDIFVNCFLSAMVEVPAYVLAWLLLQYLPRRYSMATALFLGGSVLLFMQLVPPDLYYLATVLVMVGKFGVTAAFS MVYVYTAELYPTVVRNMGVGVSSTASRLGSILSPYFVYLVAYDRFLPYILMGSLTILTAILTLFLPESFGTPLPDTIDQM LRVKGMKHRKTPSHTRMLKDGQERPTILKSTAF*

Gene Symbol:	SLC22A5
Accession:	XM_011543590
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	278

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWQHLSWVWPSGTEILGKSVRIIFSTLGVCIFYAFGYMVLPLFAYFIRDWRMLLVALTMPGVLCVALWWFIPESPRWLIS QGRFEEAEVIIRKAAKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLRTWNIRMVTIMSIMLWMTISVGYFGLSLDTP NLHGDIFVNCFLSAMVEVPAYVLAWLLLQYLPRRYSMATALFLGGSVLLFMQLVPPDLYYLATVLVMVGKFGVTAAFSMV YVYTAELYPTVVRNMGVGVSSTASRLGSILSPYFVYLVAYDRFLPYILMGSLTILTAILTLFLPESFGTPLPDTIDQMLR VKGMKHRKTPSHTRMLKDGQERPTILKSTAF*

Gene Symbol:	SLC22A5
Accession:	NM_003060
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	484

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

Gene Symbol:	SLC22A5
Accession:	NM_001308122
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	508

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

Gene Symbol:	SLC22A5
Accession:	XM_047417597
Location:	INTRON

Gene Symbol:	SLC22A5
Accession:	XM_047417598
Location:	INTRON

Gene Symbol:	SLC22A5
Accession:	XM_047417595
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:18673259	PMID:25741868	PMID:26633542	PMID:26828774	PMID:28074886	PMID:28492532	PMID:28841266

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000186146	CLINVAR
	RCV000549976	CLINVAR
	RCV000785735	CLINVAR
	RCV002307436	CLINVAR
dbSNP (RS)	rs28383480	CLINVAR
MedGen	C0271183	CLINVAR
	C0342788	CLINVAR
	C3661900	CLINVAR
	CN169374	CLINVAR
NCBI Gene	SLC22A5	CLINVAR
OMIM	212140	CLINVAR
	603377	CLINVAR
SNOMED CT	21764004	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:10058908 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:10058908 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar