RGD:11659210 Rat Genome Database

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Variant: RGD:11659210 -  Homo sapiens

RGD ID: 11659210
RS ID: rs886048067
ClinVar ID: CV325746
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSD  LOC130005119  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 1,785,136
GRCh38 11 1,763,906
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.5087A>G
NC_000011.10:g.1763906T>C
NC_000011.9:g.1785136T>C
NM_001909.5:c.-47A>G
More... 		06/14/2016 5 prime utr variant uncertain significance Ceroid lipofuscinosis neuronal Cathepsin D-deficient; CTSD-Related Neuronal Ceroid-Lipofuscinosis; Neuronal ceroid lipofuscinosis due to Cathepsin D deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CTSD
Accession:NM_001909
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000355994 CLINVAR
dbSNP (RS) rs886048067 CLINVAR
MedGen C1864669 CLINVAR
NCBI Gene CTSD CLINVAR
  LOC130005119 CLINVAR
OMIM 116840 CLINVAR
  610127 CLINVAR