RGD:11628227 Rat Genome Database

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Variant: RGD:11628227 -  Homo sapiens

RGD ID: 11628227
RS ID: rs1057515977
ClinVar ID: CV352384
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UBQLN2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 56,592,197
GRCh38 X 56,565,764
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_665t1:c.*16T>C
LRG_665:g.7172T>C
NG_016249.1:g.7172T>C
NC_000023.11:g.56565764T>C
More... 		01/12/2018 3 prime utr variant uncertain significance AMYOTROPHIC LATERAL SCLEROSIS 15 WITH FRONTOTEMPORAL DEMENTIA; Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:UBQLN2
Accession:NM_013444
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000297168 CLINVAR
  RCV001169694 CLINVAR
dbSNP (RS) rs1057515977 CLINVAR
MedGen C3275459 CLINVAR
  CN239175 CLINVAR
NCBI Gene UBQLN2 CLINVAR
OMIM 300264 CLINVAR
  300857 CLINVAR