rs886048063 Rat Genome Database

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Variant: rs886048063 -  Homo sapiens

RGD ID: 11664505
RS ID: rs886048063
ClinVar ID: CV313451
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSD  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 1,774,675
GRCh38 11 1,753,445
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.15548C>T
NC_000011.10:g.1753445G>A
NC_000011.9:g.1774675G>A
NM_001909.4:c.*58C>T
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 RCV000406144 CLINVAR
dbSNP (RS) rs886048063 CLINVAR
MedGen C1864669 CLINVAR
NCBI Gene CTSD CLINVAR
OMIM 116840 CLINVAR
  610127 CLINVAR