RGD:151752441 Rat Genome Database

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Variant: RGD:151752441 -  Homo sapiens

RGD ID: 151752441
RS ID: rs2059993019
ClinVar ID: CV1370626
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LGI1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 95,557,466
GRCh38 10 93,797,709
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001308276.2:c.1436A>G
NM_005097.4:c.1580A>G
NM_001308275.2:c.839-40A>G
NG_011832.1:g.44901A>G
More... 		09/24/2021 intron variant uncertain significance
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_001308276
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 479
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESERSKRMGNACIPLKRIAYFLCLLSALLLTEGKKPAKPKCPAVCTCTKDNALCENARSIPRTVPPDVISLSFVRSGFT
EISEGSFLFTPSLQLLSLANNNLQTLPKDIFKGLDSLTNVDLRGNSFNCDCKLKWLVEWLGHTNATVEDIYCEGPPEYKK
RKINSLSSKDFDCIITEFAKSQDLPYQSLSIDTFSYLNDEYVVIAQPFTGKCIFLEWDHVEKTFRNYDNITGTSTVVCKP
IVIETQLYVIVAQLFGGSHIYKRDSFANKFIKIQDIEILKIRKPNDIETFKIENNWYFVVADSSKAGFTTIYKWNGNGFY
SHQSLHAWYRDTDVEYLEIVRTPQTLRTPHLILSSSSQRPVIYQWNKATQLFTNQTDIPNMEDVYAVKHFSVKGDVYICL
TRFIGDSKVMKWGGSSFQDIQRMPSRGSMVFQPLQINNYQYAILGSDYSFTQVYNWDAEKAKFVKFQELNVQAPRSFTRV
SINKRNFLFASSFKGNTQIYKHVIVDLSA*

Gene Symbol:LGI1
Accession:NM_005097
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 527
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESERSKRMGNACIPLKRIAYFLCLLSALLLTEGKKPAKPKCPAVCTCTKDNALCENARSIPRTVPPDVISLSFVRSGFT
EISEGSFLFTPSLQLLLFTSNSFDVISDDAFIGLPHLEYLFIENNNIKSISRHTFRGLKSLIHLSLANNNLQTLPKDIFK
GLDSLTNVDLRGNSFNCDCKLKWLVEWLGHTNATVEDIYCEGPPEYKKRKINSLSSKDFDCIITEFAKSQDLPYQSLSID
TFSYLNDEYVVIAQPFTGKCIFLEWDHVEKTFRNYDNITGTSTVVCKPIVIETQLYVIVAQLFGGSHIYKRDSFANKFIK
IQDIEILKIRKPNDIETFKIENNWYFVVADSSKAGFTTIYKWNGNGFYSHQSLHAWYRDTDVEYLEIVRTPQTLRTPHLI
LSSSSQRPVIYQWNKATQLFTNQTDIPNMEDVYAVKHFSVKGDVYICLTRFIGDSKVMKWGGSSFQDIQRMPSRGSMVFQ
PLQINNYQYAILGSDYSFTQVYNWDAEKAKFVKFQELNVQAPRSFTRVSINKRNFLFASSFKGNTQIYKHVIVDLSA*

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

Gene Symbol:LGI1
Accession:XM_017016912
Location:INTRON

Gene Symbol:LGI1
Accession:NM_001308275
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001894474 CLINVAR
dbSNP (RS) rs2059993019 CLINVAR
MedGen C1838062 CLINVAR
NCBI Gene LGI1 CLINVAR
OMIM 604619 CLINVAR
SNOMED CT 784377008 CLINVAR