RGD:11643223 Rat Genome Database

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Variant: RGD:11643223 -  Homo sapiens

RGD ID: 11643223
RS ID: rs531682785
ClinVar ID: CV271614
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSD  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 1,775,214
GRCh38 11 1,753,984
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008655.1:g.15009G>A
NC_000011.10:g.1753984C>T
NC_000011.9:g.1775214C>T
NM_001909.4:c.972+10G>A
More... 		04/24/2017 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; Ceroid storage disease; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CTSD
Accession:NM_001909
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000389907 CLINVAR
  RCV000725998 CLINVAR
  RCV001434058 CLINVAR
  RCV003940033 CLINVAR
dbSNP (RS) rs531682785 CLINVAR
MedGen C0027877 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CTSD CLINVAR
OMIM 116840 CLINVAR
SNOMED CT 42012007 CLINVAR