RGD:14691149 Rat Genome Database

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Variant: RGD:14691149 -  Homo sapiens

RGD ID: 14691149
RS ID: rs757979350
ClinVar ID: CV621908
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC22A5  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 131,719,933
GRCh38 5 132,384,241
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001295051.1:p.Val222Leu
NC_000005.10:g.132384241G>T
NC_000005.9:g.131719933G>T
NP_003051.1:p.Val198Leu
More...
10/03/2022 missense variant conflicting interpretations of pathogenicity|uncertain significance 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; Primary carnitine deficiency; Systemic primary carnitine deficiency disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC22A5
Accession:XM_011543590
Location:5UTRS;EXON

Gene Symbol:SLC22A5
Accession:XM_047417596
Location:5UTRS;EXON

Gene Symbol:SLC22A5
Accession:NM_003060
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 198
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLRLRDGREVPHS
CRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTIVTEWNLVCEDDWKAPLTISLFFVGVLLGSFIS
GQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFEMFVLLFVLVGMGQISNYVAAFVLGTEILGKSVRIIFSTLGVCIFYA
FGYMVLPLFAYFIRDWRMLLVALTMPGVLCVALWWFIPESPRWLISQGRFEEAEVIIRKAAKANGIVVPSTIFDPSELQD
LSSKKQQSHNILDLLRTWNIRMVTIMSIMLWMTISVGYFGLSLDTPNLHGDIFVNCFLSAMVEVPAYVLAWLLLQYLPRR
YSMATALFLGGSVLLFMQLVPPDLYYLATVLVMVGKFGVTAAFSMVYVYTAELYPTVVRNMGVGVSSTASRLGSILSPYF
VYLGAYDRFLPYILMGSLTILTAILTLFLPESFGTPLPDTIDQMLRVKGMKHRKTPSHTRMLKDGQERPTILKSTAF*

Gene Symbol:SLC22A5
Accession:NM_001308122
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 222
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLRLRDGREVPHS
CRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTIVTEQDSGAYNAMKNRMGKKPALCLPAQWNLVC
EDDWKAPLTISLFFVGVLLGSFISGQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFEMFVLLFVLVGMGQISNYVAAFV
LGTEILGKSVRIIFSTLGVCIFYAFGYMVLPLFAYFIRDWRMLLVALTMPGVLCVALWWFIPESPRWLISQGRFEEAEVI
IRKAAKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLRTWNIRMVTIMSIMLWMTISVGYFGLSLDTPNLHGDIFVNC
FLSAMVEVPAYVLAWLLLQYLPRRYSMATALFLGGSVLLFMQLVPPDLYYLATVLVMVGKFGVTAAFSMVYVYTAELYPT
VVRNMGVGVSSTASRLGSILSPYFVYLGAYDRFLPYILMGSLTILTAILTLFLPESFGTPLPDTIDQMLRVKGMKHRKTP
SHTRMLKDGQERPTILKSTAF*

Gene Symbol:SLC22A5
Accession:XM_017009778
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGMQTGFSFLQIFSKNFEMFVLLFVLVGMGQISNYVAAFVLGTEILGKSVRIIFSTLGVCIFYAFGYMVLPLFAYFIRDW
RMLLVALTMPGVLCVALWWFIPESPRWLISQGRFEEAEVIIRKAAKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLR
TWNIRMVTIMSIMLWMTISVGYFGLSLDTPNLHGDIFVNCFLSAMVEVPAYVLAWLLLQYLPRRYSMATALFLGGSVLLF
MQLVPPDLYYLATVLVMVGKFGVTAAFSMVYVYTAELYPTVVRNMGVGVSSTASRLGSILSPYFVYLGAYDRFLPYILMG
SLTILTAILTLFLPESFGTPLPDTIDQMLRVKGMKHRKTPSHTRMLKDGQERPTILKSTAF*

Gene Symbol:SLC22A5
Accession:XM_047417595
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 222
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLRLRDGREVPHS
CRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTIVTEQDSGAYNAMKNRMGKKPALCLPAQWNLVC
EDDWKAPLTISLFFVGVLLGSFISGQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFEMFVLLFVLVGMGQISNYVAAFV
LGTEILGKSVRIIFSTLGVCIFYAFGYMVLPLFAYFIRDWRMLLVALTMPGVLCVALWWFIPESPRWLISQGRFEEAEVI
IRKAAKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLRTWNIRMVTIMSIML*

Gene Symbol:SLC22A5
Accession:XM_047417597
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 222
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLRLRDGREVPHS
CRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTIVTEQDSGAYNAMKNRMGKKPALCLPAQWNLVC
EDDWKAPLTISLFFVGVLLGSFISGQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFEMFVLLFVLVGMGQISNYVAAFV
LGMAIRLEDRNSWQVSSYNILYVRSVHILCIWLHGAATVCLLHPRLADAAGGADDAGGAMRGTLVVHP*

Gene Symbol:SLC22A5
Accession:XM_047417598
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 222
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLRLRDGREVPHS
CRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTIVTEQDSGAYNAMKNRMGKKPALCLPAQWNLVC
EDDWKAPLTISLFFVGVLLGSFISGQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFEMFVLLFVLVGMGQISNYVAAFV
LGMAIRDRNSWQVSSYNILYVRSVHILCIWLHGAATVCLLHPRLADAAGGADDAGGAMRGTLVVHP*

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000781949 CLINVAR
dbSNP (RS) rs757979350 CLINVAR
MedGen C0342788 CLINVAR
NCBI Gene SLC22A5 CLINVAR
OMIM 212140 CLINVAR
  603377 CLINVAR
SNOMED CT 21764004 CLINVAR