RGD:8639847 Rat Genome Database

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Variant: RGD:8639847 -  Homo sapiens

RGD ID: 8639847
RS ID: rs7885771
ClinVar ID: CV98830
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: L1CAM  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 153,132,332
GRCh38 X 153,866,877
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009645.3:g.47347C>T
NC_000023.11:g.153866877G>A
NC_000023.10:g.153132332G>A
NM_000425.3:c.2209-6C>T
More... 		11/12/2020 intron|intron variant benign|conflicting interpretations of pathogenicity|conflicting data from submitters AllHighlyPenetrant; Familial spastic paraparesis; none provided
Disease Annotations     Click to see Annotation Detail View

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_001143963
Location:INTRON

Gene Symbol:L1CAM
Accession:NM_024003
Location:INTRON

Gene Symbol:L1CAM
Accession:NM_001278116
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:18414213   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000078731 CLINVAR
  RCV000471972 CLINVAR
  RCV001689622 CLINVAR
  RCV001847648 CLINVAR
dbSNP (RS) rs7885771 CLINVAR
MedGen C0037772 CLINVAR
  C0037773 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene L1CAM CLINVAR
OMIM 308840 CLINVAR
SNOMED CT 39912006 CLINVAR