RGD:11591427 Rat Genome Database

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Variant: RGD:11591427 -  Homo sapiens

RGD ID: 11591427
RS ID: rs761208282
ClinVar ID: CV300718
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LMNB1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 126,172,585
GRCh38 5 126,836,893
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008360.2:g.64753G>C
NC_000005.10:g.126836893G>C
NC_000005.9:g.126172585G>C
NR_134488.1:n.3354G>C
More... 		06/14/2016 3 prime utr variant uncertain significance Autosomal Dominant Leukodystrophy with Autonomic Disease; Leukodystrophy, adult-onset, autosomal dominant; Multiple sclerosis-like disorder; Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type; Pelizaeus-Merzbacher disease, late-onset type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LMNB1
Accession:NM_005573
Location:3UTRS;EXON

Gene Symbol:LMNB1
Accession:XM_047417174
Location:3UTRS;EXON

Gene Symbol:LMNB1
Accession:XM_047417173
Location:3UTRS;EXON

Gene Symbol:LMNB1
Accession:XM_047417175
Location:3UTRS;EXON

Gene Symbol:LMNB1
Accession:NM_001198557
Location:3UTRS;EXON

Gene Symbol:LMNB1
Accession:NR_177109
Location:EXON;NON-CODING

Gene Symbol:LMNB1
Accession:NR_134488
Location:EXON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000328799 CLINVAR
dbSNP (RS) rs761208282 CLINVAR
MedGen C1868512 CLINVAR
NCBI Gene LMNB1 CLINVAR
OMIM 150340 CLINVAR
  169500 CLINVAR