RGD:10408588 Rat Genome Database

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Variant: RGD:10408588 -  Homo sapiens

RGD ID: 10408588
RS ID: rs797044996
ClinVar ID: CV205001
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LGI1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 95,518,025
GRCh38 10 93,758,268
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_011832.1:g.5460T>C
NC_000010.11:g.93758268T>C
NC_000010.10:g.95518025T>C
NM_005097.2:c.124T>C
More... 		08/27/2015 missense variant pathogenic|not provided adolescent
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LGI1
Accession:XM_017016912
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESERSKRMGNACIPLKRIAYFLCLLSALLLTEGKKPAKPKRPAVCTCTKDNALCENARSIPRTVPPDVISLSFVRSGFT
EISEGSFLFTPSLQLLSLANNNLQTLPKDIFKGLDSLTNVDLRGNSFNCDCKLKWLVEWLGHTNATVEDIYCEGPPEYKK
RKINSLSSKDFDCIITEFAKSQDLPYQSLSIDTFSYLNDEYVVIAQPFTGKCIFLEWDHVEKTFRNYDNITVLREIHRFT
NMS*

Gene Symbol:LGI1
Accession:XM_017016911
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESERSKRMGNACIPLKRIAYFLCLLSALLLTEGKKPAKPKRPAVCTCTKDNALCENARSIPRTVPPDVISLSFVRSGFT
EISEGSFLFTPSLQLLLFTSNSFDVISDDAFIGLPHLEYLFIENNNIKSISRHTFRGLKSLIHLSLANNNLQTLPKDIFK
GLDSLTNVDLRGNSFNCDCKLKWLVEWLGHTNATVEDIYCEGPPEYKKRKINSLSSKDFDCIITEFAKSQDLPYQSLSID
TFSYLNDEYVVIAQPFTGKCIFLEWDHVEKTFRNYDNITGS*

Gene Symbol:LGI1
Accession:NM_001308276
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESERSKRMGNACIPLKRIAYFLCLLSALLLTEGKKPAKPKRPAVCTCTKDNALCENARSIPRTVPPDVISLSFVRSGFT
EISEGSFLFTPSLQLLSLANNNLQTLPKDIFKGLDSLTNVDLRGNSFNCDCKLKWLVEWLGHTNATVEDIYCEGPPEYKK
RKINSLSSKDFDCIITEFAKSQDLPYQSLSIDTFSYLNDEYVVIAQPFTGKCIFLEWDHVEKTFRNYDNITGTSTVVCKP
IVIETQLYVIVAQLFGGSHIYKRDSFANKFIKIQDIEILKIRKPNDIETFKIENNWYFVVADSSKAGFTTIYKWNGNGFY
SHQSLHAWYRDTDVEYLEIVRTPQTLRTPHLILSSSSQRPVIYQWNKATQLFTNQTDIPNMEDVYAVKHFSVKGDVYICL
TRFIGDSKVMKWGGSSFQDIQRMPSRGSMVFQPLQINNYQYAILGSDYSFTQVYNWDAEKAKFVKFQELNVQAPRSFTHV
SINKRNFLFASSFKGNTQIYKHVIVDLSA*

Gene Symbol:LGI1
Accession:NM_005097
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESERSKRMGNACIPLKRIAYFLCLLSALLLTEGKKPAKPKRPAVCTCTKDNALCENARSIPRTVPPDVISLSFVRSGFT
EISEGSFLFTPSLQLLLFTSNSFDVISDDAFIGLPHLEYLFIENNNIKSISRHTFRGLKSLIHLSLANNNLQTLPKDIFK
GLDSLTNVDLRGNSFNCDCKLKWLVEWLGHTNATVEDIYCEGPPEYKKRKINSLSSKDFDCIITEFAKSQDLPYQSLSID
TFSYLNDEYVVIAQPFTGKCIFLEWDHVEKTFRNYDNITGTSTVVCKPIVIETQLYVIVAQLFGGSHIYKRDSFANKFIK
IQDIEILKIRKPNDIETFKIENNWYFVVADSSKAGFTTIYKWNGNGFYSHQSLHAWYRDTDVEYLEIVRTPQTLRTPHLI
LSSSSQRPVIYQWNKATQLFTNQTDIPNMEDVYAVKHFSVKGDVYICLTRFIGDSKVMKWGGSSFQDIQRMPSRGSMVFQ
PLQINNYQYAILGSDYSFTQVYNWDAEKAKFVKFQELNVQAPRSFTHVSINKRNFLFASSFKGNTQIYKHVIVDLSA*

Gene Symbol:LGI1
Accession:NM_001308275
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESERSKRMGNACIPLKRIAYFLCLLSALLLTEGKKPAKPKRPAVCTCTKDNALCENARSIPRTVPPDVISLSFVRSGFT
EISEGSFLFTPSLQLLLFTSNSFDVISDDAFIGLPHLEYLFIENNNIKSISRHTFRGLKSLIHLSLANNNLQTLPKDIFK
GLDSLTNVDLRGNSFNCDCKLKWLVEWLGHTNATVEDIYCEGPPEYKKRKINSLSSKDFDCIITEFAKSQDLPYQSLSID
TFSYLNDEYVVIAQPFTGKCIFLEWDHVEKTFRNYDNITVLREIHRFTNMS*

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

Variant Samples
Additional References at PubMed
PMID:15079010   PMID:15079011  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000195223 CLINVAR
dbSNP (RS) rs797044996 CLINVAR
MedGen C4551957 CLINVAR
NCBI Gene LGI1 CLINVAR
OMIM 600512 CLINVAR
  604619 CLINVAR