RGD:12842409 Rat Genome Database

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Variant: RGD:12842409 -  Homo sapiens

RGD ID: 12842409
RS ID: rs377703110
ClinVar ID: CV372301
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSD  PRADX  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 1,782,714
GRCh38 11 1,761,484
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001909.5:c.69-16G>A
NG_008655.1:g.7509G>A
NC_000011.10:g.1761484C>T
NC_000011.9:g.1782714C>T
More... 		04/28/2016 intron variant likely benign AllHighlyPenetrant; Ceroid storage disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRADX
Accession:NR_182291
Location:EXON;NON-CODING

Gene Symbol:CTSD
Accession:NM_001909
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000434347 CLINVAR
  RCV002064941 CLINVAR
dbSNP (RS) rs377703110 CLINVAR
MedGen C0027877 CLINVAR
  CN169374 CLINVAR
NCBI Gene CTSD CLINVAR
  PRADX CLINVAR
OMIM 116840 CLINVAR
SNOMED CT 42012007 CLINVAR