RGD:11606546 Rat Genome Database

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Variant: RGD:11606546 -  Homo sapiens

RGD ID: 11606546
RS ID: rs148804268
ClinVar ID: CV323345
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LGI1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 95,557,278
GRCh38 10 93,797,521
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NC_000010.11:g.93797521G>A
NC_000010.10:g.95557278G>A
NM_005097.2:c.1392G>A
NP_005088.1:p.Ser464=
More... 		12/31/2019 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance adolescent
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LGI1
Accession:XM_017016911
Location:3UTRS;EXON

Gene Symbol:LGI1
Accession:NM_005097
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 464
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESERSKRMGNACIPLKRIAYFLCLLSALLLTEGKKPAKPKCPAVCTCTKDNALCENARSIPRTVPPDVISLSFVRSGFT
EISEGSFLFTPSLQLLLFTSNSFDVISDDAFIGLPHLEYLFIENNNIKSISRHTFRGLKSLIHLSLANNNLQTLPKDIFK
GLDSLTNVDLRGNSFNCDCKLKWLVEWLGHTNATVEDIYCEGPPEYKKRKINSLSSKDFDCIITEFAKSQDLPYQSLSID
TFSYLNDEYVVIAQPFTGKCIFLEWDHVEKTFRNYDNITGTSTVVCKPIVIETQLYVIVAQLFGGSHIYKRDSFANKFIK
IQDIEILKIRKPNDIETFKIENNWYFVVADSSKAGFTTIYKWNGNGFYSHQSLHAWYRDTDVEYLEIVRTPQTLRTPHLI
LSSSSQRPVIYQWNKATQLFTNQTDIPNMEDVYAVKHFSVKGDVYICLTRFIGDSKVMKWGGSSFQDIQRMPSRGSMVFQ
PLQINNYQYAILGSDYSFTQVYNWDAEKAKFVKFQELNVQAPRSFTHVSINKRNFLFASSFKGNTQIYKHVIVDLSA*

Gene Symbol:LGI1
Accession:NM_001308276
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 416
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESERSKRMGNACIPLKRIAYFLCLLSALLLTEGKKPAKPKCPAVCTCTKDNALCENARSIPRTVPPDVISLSFVRSGFT
EISEGSFLFTPSLQLLSLANNNLQTLPKDIFKGLDSLTNVDLRGNSFNCDCKLKWLVEWLGHTNATVEDIYCEGPPEYKK
RKINSLSSKDFDCIITEFAKSQDLPYQSLSIDTFSYLNDEYVVIAQPFTGKCIFLEWDHVEKTFRNYDNITGTSTVVCKP
IVIETQLYVIVAQLFGGSHIYKRDSFANKFIKIQDIEILKIRKPNDIETFKIENNWYFVVADSSKAGFTTIYKWNGNGFY
SHQSLHAWYRDTDVEYLEIVRTPQTLRTPHLILSSSSQRPVIYQWNKATQLFTNQTDIPNMEDVYAVKHFSVKGDVYICL
TRFIGDSKVMKWGGSSFQDIQRMPSRGSMVFQPLQINNYQYAILGSDYSFTQVYNWDAEKAKFVKFQELNVQAPRSFTHV
SINKRNFLFASSFKGNTQIYKHVIVDLSA*

Gene Symbol:LGI1
Accession:NR_131777
Location:EXON;NON-CODING

Gene Symbol:LGI1
Accession:NM_001308275
Location:INTRON

Gene Symbol:LGI1
Accession:XM_017016912
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000332625 CLINVAR
  RCV002229858 CLINVAR
  RCV002311412 CLINVAR
dbSNP (RS) rs148804268 CLINVAR
MedGen C0950123 CLINVAR
  C1838062 CLINVAR
  C4551957 CLINVAR
NCBI Gene LGI1 CLINVAR
OMIM 600512 CLINVAR
  604619 CLINVAR
SNOMED CT 784377008 CLINVAR