rs1565022065 Rat Genome Database

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Variant: rs1565022065 -  Homo sapiens

RGD ID: 13802944
RS ID: rs1565022065
ClinVar ID: CV570405
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSD  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 1,780,323
GRCh38 11 1,759,093
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.9900G>A
NC_000011.10:g.1759093C>T
NM_001909.5:c.353-6G>A
NM_001909.4:c.353-6G>A
More... 		06/04/2022 intron variant uncertain significance 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 RCV000692615 CLINVAR
dbSNP (RS) rs1565022065 CLINVAR
MedGen C0027877 CLINVAR
NCBI Gene CTSD CLINVAR
OMIM 116840 CLINVAR
SNOMED CT 42012007 CLINVAR