RGD:150533102 Rat Genome Database

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Variant: RGD:150533102 -  Homo sapiens

RGD ID: 150533102
RS ID: rs2133975470
ClinVar ID: CV1294068
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LGI1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 95,517,987
GRCh38 10 93,758,230
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000010.10:g.95517987T>C
NR_131777.2:n.295T>C
NP_001295204.1:p.Leu29Pro
NM_005097.2:c.86T>C
More... 		05/22/2020 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:LGI1
Accession:NM_005097
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESERSKRMGNACIPLKRIAYFLCLLSAPLLTEGKKPAKPKCPAVCTCTKDNALCENARSIPRTVPPDVISLSFVRSGFT
EISEGSFLFTPSLQLLLFTSNSFDVISDDAFIGLPHLEYLFIENNNIKSISRHTFRGLKSLIHLSLANNNLQTLPKDIFK
GLDSLTNVDLRGNSFNCDCKLKWLVEWLGHTNATVEDIYCEGPPEYKKRKINSLSSKDFDCIITEFAKSQDLPYQSLSID
TFSYLNDEYVVIAQPFTGKCIFLEWDHVEKTFRNYDNITGTSTVVCKPIVIETQLYVIVAQLFGGSHIYKRDSFANKFIK
IQDIEILKIRKPNDIETFKIENNWYFVVADSSKAGFTTIYKWNGNGFYSHQSLHAWYRDTDVEYLEIVRTPQTLRTPHLI
LSSSSQRPVIYQWNKATQLFTNQTDIPNMEDVYAVKHFSVKGDVYICLTRFIGDSKVMKWGGSSFQDIQRMPSRGSMVFQ
PLQINNYQYAILGSDYSFTQVYNWDAEKAKFVKFQELNVQAPRSFTHVSINKRNFLFASSFKGNTQIYKHVIVDLSA*

Gene Symbol:LGI1
Accession:XM_017016911
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESERSKRMGNACIPLKRIAYFLCLLSAPLLTEGKKPAKPKCPAVCTCTKDNALCENARSIPRTVPPDVISLSFVRSGFT
EISEGSFLFTPSLQLLLFTSNSFDVISDDAFIGLPHLEYLFIENNNIKSISRHTFRGLKSLIHLSLANNNLQTLPKDIFK
GLDSLTNVDLRGNSFNCDCKLKWLVEWLGHTNATVEDIYCEGPPEYKKRKINSLSSKDFDCIITEFAKSQDLPYQSLSID
TFSYLNDEYVVIAQPFTGKCIFLEWDHVEKTFRNYDNITGS*

Gene Symbol:LGI1
Accession:NM_001308276
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESERSKRMGNACIPLKRIAYFLCLLSAPLLTEGKKPAKPKCPAVCTCTKDNALCENARSIPRTVPPDVISLSFVRSGFT
EISEGSFLFTPSLQLLSLANNNLQTLPKDIFKGLDSLTNVDLRGNSFNCDCKLKWLVEWLGHTNATVEDIYCEGPPEYKK
RKINSLSSKDFDCIITEFAKSQDLPYQSLSIDTFSYLNDEYVVIAQPFTGKCIFLEWDHVEKTFRNYDNITGTSTVVCKP
IVIETQLYVIVAQLFGGSHIYKRDSFANKFIKIQDIEILKIRKPNDIETFKIENNWYFVVADSSKAGFTTIYKWNGNGFY
SHQSLHAWYRDTDVEYLEIVRTPQTLRTPHLILSSSSQRPVIYQWNKATQLFTNQTDIPNMEDVYAVKHFSVKGDVYICL
TRFIGDSKVMKWGGSSFQDIQRMPSRGSMVFQPLQINNYQYAILGSDYSFTQVYNWDAEKAKFVKFQELNVQAPRSFTHV
SINKRNFLFASSFKGNTQIYKHVIVDLSA*

Gene Symbol:LGI1
Accession:NM_001308275
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESERSKRMGNACIPLKRIAYFLCLLSAPLLTEGKKPAKPKCPAVCTCTKDNALCENARSIPRTVPPDVISLSFVRSGFT
EISEGSFLFTPSLQLLLFTSNSFDVISDDAFIGLPHLEYLFIENNNIKSISRHTFRGLKSLIHLSLANNNLQTLPKDIFK
GLDSLTNVDLRGNSFNCDCKLKWLVEWLGHTNATVEDIYCEGPPEYKKRKINSLSSKDFDCIITEFAKSQDLPYQSLSID
TFSYLNDEYVVIAQPFTGKCIFLEWDHVEKTFRNYDNITVLREIHRFTNMS*

Gene Symbol:LGI1
Accession:XM_017016912
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESERSKRMGNACIPLKRIAYFLCLLSAPLLTEGKKPAKPKCPAVCTCTKDNALCENARSIPRTVPPDVISLSFVRSGFT
EISEGSFLFTPSLQLLSLANNNLQTLPKDIFKGLDSLTNVDLRGNSFNCDCKLKWLVEWLGHTNATVEDIYCEGPPEYKK
RKINSLSSKDFDCIITEFAKSQDLPYQSLSIDTFSYLNDEYVVIAQPFTGKCIFLEWDHVEKTFRNYDNITVLREIHRFT
NMS*

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001758086 CLINVAR
dbSNP (RS) rs2133975470 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LGI1 CLINVAR
OMIM 604619 CLINVAR