RGD:156047870 Rat Genome Database

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Variant: RGD:156047870 -  Homo sapiens

RGD ID: 156047870
ClinVar ID: CV2390971
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC7A13  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 87,241,888
GRCh38 8 86,229,659
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_138817.3:c.619C>A
NC_000008.11:g.86229659G>T
NC_000008.10:g.87241888G>T
NM_138817.2:c.619C>A
More... 		10/05/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SLC7A13
Accession:XM_011516867
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 207
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRGEKIQLKRVFGYWWGTSFLLINIIGAGIFVSPKGVLAYSCMNVGVSLCVWAGCAILAMTSTLCSAEISISFPCSGAQ
YYFLKRYFGSTVAFLNLWTSLFLGSGVVAGQALLLAEYSIQPFFPSCSVPKLPKKCLALAMLWIVGILTSRGVKEVTWLQ
IASSVLKVSILSFISLTGVVFLIRGKKENVERFQNAFDAELPDISHIIQAIFQGYFAYSGELKKPRTTIPKCIFTALPLV
TVVYLLVNISYLTVLTPREILSSDAVAITWADRAFPSLAWIMPFAISTSLFSNLLISIFKSSRPIYLASQEGQLPLLFNT
LNSHSSPFTAVLLLVTLGSLAIILTSLIDLINYIFFTGSLWSILLMIGILRRRYQEPNLSIPYKVFLSFPLATIVIDVGL
VVIPLVKSPNVHYVYVLLLVLSGLLFYIPLIHFKIRLAWFEKMTCYLQLLFNICLPDVSEE*

Gene Symbol:SLC7A13
Accession:NM_138817
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 207
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRGEKIQLKRVFGYWWGTSFLLINIIGAGIFVSPKGVLAYSCMNVGVSLCVWAGCAILAMTSTLCSAEISISFPCSGAQ
YYFLKRYFGSTVAFLNLWTSLFLGSGVVAGQALLLAEYSIQPFFPSCSVPKLPKKCLALAMLWIVGILTSRGVKEVTWLQ
IASSVLKVSILSFISLTGVVFLIRGKKENVERFQNAFDAELPDISHIIQAIFQGYFAYSGGACFTLIAGELKKPRTTIPK
CIFTALPLVTVVYLLVNISYLTVLTPREILSSDAVAITWADRAFPSLAWIMPFAISTSLFSNLLISIFKSSRPIYLASQE
GQLPLLFNTLNSHSSPFTAVLLLVTLGSLAIILTSLIDLINYIFFTGSLWSILLMIGILRRRYQEPNLSIPYKVFLSFPL
ATIVIDVGLVVIPLVKSPNVHYVYVLLLVLSGLLFYIPLIHFKIRLAWFEKMTCYLQLLFNICLPDVSEE*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004234973 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SLC7A13 CLINVAR
OMIM 617256 CLINVAR