RGD:15190114 Rat Genome Database

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Variant: RGD:15190114 -  Homo sapiens

RGD ID: 15190114
RS ID: rs183884509
ClinVar ID: CV730905
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMP1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 13 113,965,186
GRCh38 13 113,310,871
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005561.4:c.562+4G>A
NC_000013.11:g.113310871G>A
NC_000013.10:g.113965186G>A
NM_005561.3:c.562+4G>A
 03/30/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:LAMP1
Accession:XM_011537494
Location:INTRON

Gene Symbol:LAMP1
Accession:XM_047430302
Location:INTRON

Gene Symbol:LAMP1
Accession:NM_005561
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000888012 CLINVAR
dbSNP (RS) rs183884509 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LAMP1 CLINVAR
OMIM 153330 CLINVAR