RGD:151750015 Rat Genome Database

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Variant: RGD:151750015 -  Homo sapiens

RGD ID: 151750015
RS ID: rs1370527260
ClinVar ID: CV1377417
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LGI1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 95,518,591
GRCh38 10 93,758,834
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001308275.2:c.287+3G>A
NM_001308276.2:c.287+3G>A
NM_005097.4:c.287+3G>A
NG_011832.1:g.6026G>A
More... 		10/02/2021 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LGI1
Accession:XM_017016911
Location:INTRON

Gene Symbol:LGI1
Accession:NM_005097
Location:INTRON

Gene Symbol:LGI1
Accession:NM_001308276
Location:INTRON

Gene Symbol:LGI1
Accession:XM_017016912
Location:INTRON

Gene Symbol:LGI1
Accession:NM_001308275
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001948047 CLINVAR
dbSNP (RS) rs1370527260 CLINVAR
MedGen C1838062 CLINVAR
NCBI Gene LGI1 CLINVAR
OMIM 604619 CLINVAR
SNOMED CT 784377008 CLINVAR