RGD:10049811 Rat Genome Database

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Variant: RGD:10049811 -  Homo sapiens

RGD ID: 10049811
RS ID: rs782455321
ClinVar ID: CV190975
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: L1CAM  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 153,134,293
GRCh38 X 153,868,838
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001278116.2:c.1379+3G>A
NC_000023.10:g.153134293C>T
NG_009645.3:g.45386G>A
NM_001143963.2:c.1364+3G>A
More... 		11/24/2019 intron variant benign|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View
paraplegia  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:L1CAM
Accession:NM_000425
Location:INTRON

Gene Symbol:L1CAM
Accession:NM_001278116
Location:INTRON

Gene Symbol:L1CAM
Accession:NM_001143963
Location:INTRON

Gene Symbol:L1CAM
Accession:NM_024003
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000174003 CLINVAR
  RCV001512461 CLINVAR
dbSNP (RS) rs782455321 CLINVAR
MedGen C0037772 CLINVAR
  C3661900 CLINVAR
NCBI Gene L1CAM CLINVAR
OMIM 308840 CLINVAR