RGD:14699175 Rat Genome Database

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Variant: RGD:14699175 -  Homo sapiens

RGD ID: 14699175
RS ID: rs1380200946
ClinVar ID: CV624823
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMP2  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 119,582,812
GRCh38 X 120,448,957
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_013995.2:c.556+13T>A
NG_007995.1:g.25393T>A
NC_000023.11:g.120448957A>T
NC_000023.10:g.119582812A>T
More... 		10/04/2023 intron variant conflicting interpretations of pathogenicity|uncertain significance 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_002294
Location:INTRON

Gene Symbol:LAMP2
Accession:NM_001122606
Location:INTRON

Gene Symbol:LAMP2
Accession:NM_013995
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000788426 CLINVAR
  RCV002487624 CLINVAR
dbSNP (RS) rs1380200946 CLINVAR
MedGen C0878677 CLINVAR
  C3661900 CLINVAR
NCBI Gene LAMP2 CLINVAR
OMIM 300257 CLINVAR
  309060 CLINVAR
SNOMED CT 419097006 CLINVAR