RGD:8690805 Rat Genome Database

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Variant: RGD:8690805 -  Homo sapiens

RGD ID: 8690805
RS ID: rs372689713
ClinVar ID: CV140759
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSD  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 1,780,328
GRCh38 11 1,759,098
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.9895G>A
NC_000011.10:g.1759098C>T
NC_000011.9:g.1780328C>T
NM_001909.3:c.353-11G>A
More... 		10/27/2021 intron variant benign|likely benign AllHighlyPenetrant; Ceroid storage disease
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000124644 CLINVAR
  RCV002055519 CLINVAR
dbSNP (RS) rs372689713 CLINVAR
MedGen C0027877 CLINVAR
  CN169374 CLINVAR
NCBI Gene CTSD CLINVAR
OMIM 116840 CLINVAR
SNOMED CT 42012007 CLINVAR