RGD:11665477 Rat Genome Database

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Variant: RGD:11665477 -  Homo sapiens

RGD ID: 11665477
RS ID: rs2305888
ClinVar ID: CV350562
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MCOLN1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 7,595,159
GRCh38 19 7,530,273
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_013374.1:g.1122G>A
NG_015806.1:g.12664G>A
NC_000019.10:g.7530273G>A
NC_000019.9:g.7595159G>A
More... 		11/26/2020 intron variant benign|likely benign infancy ML 4; ML IV; Mucolipidosis type 4; none provided
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 RCV000274349 CLINVAR
  RCV000352274 CLINVAR
  RCV000675744 CLINVAR
dbSNP (RS) rs2305888 CLINVAR
MedGen C0238286 CLINVAR
  C3661900 CLINVAR
  CN239433 CLINVAR
NCBI Gene MCOLN1 CLINVAR
  PNPLA6 CLINVAR
OMIM 252650 CLINVAR
  603197 CLINVAR
  605248 CLINVAR
SNOMED CT 111384001 CLINVAR