RGD:8690804 Rat Genome Database

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Variant: RGD:8690804 -  Homo sapiens

RGD ID: 8690804
RS ID: rs141523461
ClinVar ID: CV140758
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSD  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 1,780,329
GRCh38 11 1,759,099
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.9894C>T
NC_000011.10:g.1759099G>A
NC_000011.9:g.1780329G>A
NM_001909.3:c.353-12C>T
More... 		05/09/2017 intron variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; Ceroid lipofuscinosis neuronal Cathepsin D-deficient; Ceroid storage disease; CTSD-Related Neuronal Ceroid-Lipofuscinosis; Neuronal ceroid lipofuscinosis due to Cathepsin D deficiency; 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 RCV000124643 CLINVAR
  RCV000602896 CLINVAR
  RCV000675956 CLINVAR
  RCV001511074 CLINVAR
  RCV002453450 CLINVAR
dbSNP (RS) rs141523461 CLINVAR
MedGen C0027877 CLINVAR
  C0950123 CLINVAR
  C1864669 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CTSD CLINVAR
OMIM 116840 CLINVAR
  610127 CLINVAR
SNOMED CT 42012007 CLINVAR