RGD:11627678 Rat Genome Database

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Variant: RGD:11627678 -  Homo sapiens

RGD ID: 11627678
RS ID: rs765371462
ClinVar ID: CV348317
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMP2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 119,560,217
GRCh38 X 120,426,362
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_749t3:c.*2122A>G
LRG_749t1:c.*4961A>G
NM_001122606.1:c.*2122A>G
LRG_749:g.47988A>G
More... 		11/01/2022 3 prime utr variant likely benign|uncertain significance childhood <1 / 1 000 000 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); HYPERTROPHIC MYOCARDIOPATHY; 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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:LAMP2
Accession:NM_002294
Location:3UTRS;EXON

Gene Symbol:LAMP2
Accession:NM_001122606
Location:3UTRS;EXON

Gene Symbol:LAMP2
Accession:NM_013995
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000286347 CLINVAR
  RCV000378365 CLINVAR
  RCV003437147 CLINVAR
dbSNP (RS) rs765371462 CLINVAR
MedGen C0007194 CLINVAR
  C0878677 CLINVAR
  C3661900 CLINVAR
NCBI Gene LAMP2 CLINVAR
OMIM 300257 CLINVAR
  309060 CLINVAR
SNOMED CT 419097006 CLINVAR