RGD:405062453 Rat Genome Database

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Variant: RGD:405062453 -  Homo sapiens

RGD ID: 405062453
ClinVar ID: CV2929708
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSD  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 1,775,140
GRCh38 11 1,753,910
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.973-9C>T
NG_008655.1:g.15083C>T
NC_000011.10:g.1753910G>A
NC_000011.9:g.1775140G>A
 07/25/2023 intron variant likely benign 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 RCV003532495 CLINVAR
MedGen C0027877 CLINVAR
NCBI Gene CTSD CLINVAR
OMIM 116840 CLINVAR
SNOMED CT 42012007 CLINVAR