RGD:9691753 Rat Genome Database

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Variant: RGD:9691753 -  Homo sapiens

RGD ID: 9691753
RS ID: rs727503121
ClinVar ID: CV176321
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMP2  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 119,590,637
GRCh38 X 120,456,782
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001122606.1:c.65-13T>A
NM_013995.2:c.65-13T>A
NG_007995.1:g.17568T>A
NC_000023.11:g.120456782A>T
More... 		10/19/2021 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; 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); 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_013995
Location:INTRON

Gene Symbol:LAMP2
Accession:NM_002294
Location:INTRON

Gene Symbol:LAMP2
Accession:NM_001122606
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000150914 CLINVAR
  RCV002055977 CLINVAR
dbSNP (RS) rs727503121 CLINVAR
MedGen C0878677 CLINVAR
  CN169374 CLINVAR
NCBI Gene LAMP2 CLINVAR
OMIM 300257 CLINVAR
  309060 CLINVAR
SNOMED CT 419097006 CLINVAR