RGD:28885545 Rat Genome Database

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Variant: RGD:28885545 -  Homo sapiens

RGD ID: 28885545
RS ID: rs185990694
ClinVar ID: CV902715
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMP2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 119,561,719
GRCh38 X 120,427,864
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002294.3:c.*3459G>T
NC_000023.10:g.119561719C>A
LRG_749t1:c.*3459G>T
LRG_749t3:c.*620G>T
More... 		05/13/2021 3 prime utr variant benign|likely benign Antopol disease; Glycogen storage cardiomyopathy; Glycogen storage disease limited to the heart; Glycogen storage disease type 2b (formerly); Glycogen Storage Disease Type IIb; GSD IIb; GSD2B (formerly); LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY; Lysosomal glycogen storage disease without acid maltase deficiency (formerly); none provided; Pseudoglycogenosis 2; PSEUDOGLYCOGENOSIS II; Vacuolar cardiomyopathy and myopathy X-linked
Disease Annotations     Click to see Annotation Detail View
Danon disease  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:LAMP2
Accession:NM_001122606
Location:3UTRS;EXON

Gene Symbol:LAMP2
Accession:NM_002294
Location:3UTRS;EXON

Gene Symbol:LAMP2
Accession:NM_013995
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001168806 CLINVAR
  RCV001779126 CLINVAR
dbSNP (RS) rs185990694 CLINVAR
MedGen C0878677 CLINVAR
  C3661900 CLINVAR
NCBI Gene LAMP2 CLINVAR
OMIM 300257 CLINVAR
  309060 CLINVAR
SNOMED CT 419097006 CLINVAR