RGD:405109260 Rat Genome Database

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Variant: RGD:405109260 -  Homo sapiens

RGD ID: 405109260
ClinVar ID: CV3063377
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MCOLN1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 7,591,313
GRCh38 19 7,526,427
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.238-12C>A
NG_015806.1:g.8818C>A
NC_000019.10:g.7526427C>A
NC_000019.9:g.7591313C>A
 11/09/2023 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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003615234 CLINVAR
MedGen C0238286 CLINVAR
NCBI Gene MCOLN1 CLINVAR
OMIM 252650 CLINVAR
  605248 CLINVAR
SNOMED CT 111384001 CLINVAR