RGD:28904011 Rat Genome Database

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Variant: RGD:28904011 -  Homo sapiens

RGD ID: 28904011
RS ID: rs955942954
ClinVar ID: CV867657
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSD  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 1,774,403
GRCh38 11 1,753,173
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.*330G>T
NG_008655.1:g.15820G>T
NC_000011.10:g.1753173C>A
NC_000011.9:g.1774403C>A
More... 		01/13/2018 3 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:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001105392 CLINVAR
dbSNP (RS) rs955942954 CLINVAR
MedGen C1864669 CLINVAR
NCBI Gene CTSD CLINVAR
OMIM 116840 CLINVAR
  610127 CLINVAR