rs2022513285 Rat Genome Database

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Variant: rs2022513285 -  Homo sapiens

RGD ID: 152101394
RS ID: rs2022513285
ClinVar ID: CV1578882
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC105372261  MCOLN1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 7,587,676
GRCh38 19 7,522,790
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_020533.3:c.31+9G>A
NG_015806.1:g.5181G>A
NC_000019.10:g.7522790G>A
NC_000019.9:g.7587676G>A
 11/03/2021 intron variant likely benign ML 4; ML IV; Mucolipidosis type 4
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MCOLN1
Accession:NM_020533
Location:INTRON

Gene Symbol:LOC105372261
Accession:XR_936294
Location:INTRON;NON-CODING

Gene Symbol:LOC105372261
Accession:XR_936293
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002079041 CLINVAR
dbSNP (RS) rs2022513285 CLINVAR
MedGen C0238286 CLINVAR
NCBI Gene MCOLN1 CLINVAR
OMIM 252650 CLINVAR
  605248 CLINVAR
SNOMED CT 111384001 CLINVAR