RGD:10397726 Rat Genome Database

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Variant: RGD:10397726 -  Homo sapiens

RGD ID: 10397726
RS ID: rs796052694
ClinVar ID: CV202511
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LGI1  LOC105378437  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 95,537,142
GRCh38 10 93,777,385
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011832.1:g.24577C>A
NC_000010.11:g.93777385C>A
NC_000010.10:g.95537142C>A
NP_005088.1:p.Phe98Leu
More... 		12/26/2013 intron variant|missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:LGI1
Accession:NM_001308275
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 98
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESERSKRMGNACIPLKRIAYFLCLLSALLLTEGKKPAKPKCPAVCTCTKDNALCENARSIPRTVPPDVISLSFVRSGFT
EISEGSFLFTPSLQLLLLTSNSFDVISDDAFIGLPHLEYLFIENNNIKSISRHTFRGLKSLIHLSLANNNLQTLPKDIFK
GLDSLTNVDLRGNSFNCDCKLKWLVEWLGHTNATVEDIYCEGPPEYKKRKINSLSSKDFDCIITEFAKSQDLPYQSLSID
TFSYLNDEYVVIAQPFTGKCIFLEWDHVEKTFRNYDNITVLREIHRFTNMS*

Gene Symbol:LGI1
Accession:NM_005097
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 98
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESERSKRMGNACIPLKRIAYFLCLLSALLLTEGKKPAKPKCPAVCTCTKDNALCENARSIPRTVPPDVISLSFVRSGFT
EISEGSFLFTPSLQLLLLTSNSFDVISDDAFIGLPHLEYLFIENNNIKSISRHTFRGLKSLIHLSLANNNLQTLPKDIFK
GLDSLTNVDLRGNSFNCDCKLKWLVEWLGHTNATVEDIYCEGPPEYKKRKINSLSSKDFDCIITEFAKSQDLPYQSLSID
TFSYLNDEYVVIAQPFTGKCIFLEWDHVEKTFRNYDNITGTSTVVCKPIVIETQLYVIVAQLFGGSHIYKRDSFANKFIK
IQDIEILKIRKPNDIETFKIENNWYFVVADSSKAGFTTIYKWNGNGFYSHQSLHAWYRDTDVEYLEIVRTPQTLRTPHLI
LSSSSQRPVIYQWNKATQLFTNQTDIPNMEDVYAVKHFSVKGDVYICLTRFIGDSKVMKWGGSSFQDIQRMPSRGSMVFQ
PLQINNYQYAILGSDYSFTQVYNWDAEKAKFVKFQELNVQAPRSFTHVSINKRNFLFASSFKGNTQIYKHVIVDLSA*

Gene Symbol:LGI1
Accession:XM_017016911
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 98
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESERSKRMGNACIPLKRIAYFLCLLSALLLTEGKKPAKPKCPAVCTCTKDNALCENARSIPRTVPPDVISLSFVRSGFT
EISEGSFLFTPSLQLLLLTSNSFDVISDDAFIGLPHLEYLFIENNNIKSISRHTFRGLKSLIHLSLANNNLQTLPKDIFK
GLDSLTNVDLRGNSFNCDCKLKWLVEWLGHTNATVEDIYCEGPPEYKKRKINSLSSKDFDCIITEFAKSQDLPYQSLSID
TFSYLNDEYVVIAQPFTGKCIFLEWDHVEKTFRNYDNITGS*

Gene Symbol:LGI1
Accession:XM_017016912
Location:INTRON

Gene Symbol:LGI1
Accession:NM_001308276
Location:INTRON

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

Gene Symbol:LOC105378437
Accession:XR_001747552
Location:INTRON;NON-CODING

Gene Symbol:LOC105378437
Accession:XR_007062251
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000188034 CLINVAR
dbSNP (RS) rs796052694 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene LGI1 CLINVAR
OMIM 604619 CLINVAR