RGD:14689161 Rat Genome Database

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Variant: RGD:14689161 -  Homo sapiens

RGD ID: 14689161
RS ID: rs1569371192
ClinVar ID: CV615235
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMP2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 119,589,206
GRCh38 X 120,455,351
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002294.2:c.397+6C>G
LRG_749t2:c.397+6C>G
NM_001122606.1:c.397+6C>G
LRG_749t1:c.397+6C>G
More... 		03/31/2016 intron variant uncertain significance Cardiomyopathies
Disease Annotations     Click to see Annotation Detail View
cardiomyopathy  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Cardiomyopathy  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:LAMP2
Accession:NM_001122606
Location:INTRON

Gene Symbol:LAMP2
Accession:NM_002294
Location:INTRON

Gene Symbol:LAMP2
Accession:NM_013995
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000770583 CLINVAR
dbSNP (RS) rs1569371192 CLINVAR
MedGen C0878544 CLINVAR
NCBI Gene LAMP2 CLINVAR
OMIM 309060 CLINVAR
SNOMED CT 85898001 CLINVAR