RGD:8607255 Rat Genome Database

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Variant: RGD:8607255 -  Homo sapiens

RGD ID: 8607255
RS ID: rs397516752
ClinVar ID: CV53610
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMP2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 119,576,518
GRCh38 X 120,442,663
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
NM_013995.2:c.865-1G>C
NM_001122606.1:c.865-1G>C
NG_007995.1:g.31687G>C
NC_000023.11:g.120442663C>G
More...
02/13/2009 splice acceptor variant|splice-3 likely pathogenic childhood <1 / 1 000 000 HYPERTROPHIC MYOCARDIOPATHY
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:INTRON

Gene Symbol:LAMP2
Accession:NM_001122606
Location:INTRON

Gene Symbol:LAMP2
Accession:NM_013995
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000037433 CLINVAR
dbSNP (RS) rs397516752 CLINVAR
MedGen C0007194 CLINVAR
NCBI Gene LAMP2 CLINVAR
OMIM 309060 CLINVAR