RGD:11617851 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:11617851 -  Homo sapiens

RGD ID: 11617851
RS ID: rs41300191
ClinVar ID: CV338751
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMP2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 119,564,973
GRCh38 X 120,431,118
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_749t1:c.*205C>T
LRG_749t3:c.1094-2492C>T
NM_001122606.1:c.1094-2492C>T
LRG_749:g.43232C>T
More...
01/12/2018 3 prime utr variant benign|likely benign 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_013995
Location:INTRON

Gene Symbol:LAMP2
Accession:NM_001122606
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000308521 CLINVAR
  RCV000408349 CLINVAR
  RCV001662358 CLINVAR
dbSNP (RS) rs41300191 CLINVAR
MedGen C0007194 CLINVAR
  C0878677 CLINVAR
  C3661900 CLINVAR
NCBI Gene LAMP2 CLINVAR
OMIM 300257 CLINVAR
  309060 CLINVAR
SNOMED CT 419097006 CLINVAR