RGD:8574327 Rat Genome Database

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Variant: RGD:8574327 -  Homo sapiens

RGD ID: 8574327
RS ID: rs587779409
ClinVar ID: CV106597
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSD  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 1,780,200
GRCh38 11 1,758,970
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.10023C>T
NC_000011.10:g.1758970G>A
NC_000011.9:g.1780200G>A
NP_001900.1:p.Ser157Leu
More... 		08/13/2018 missense variant pathogenic|uncertain significance AllHighlyPenetrant; Ceroid lipofuscinosis neuronal Cathepsin D-deficient; Ceroid storage disease; 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:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 157
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQPSSLLPLALCLLAAPASALVRIPLHKFTSIRRTMSEVGGSVEDLIAKGPVSKYSQAVPAVTEGPIPEVLKNYMDAQYY
GEIGIGTPPQCFTVVFDTGSSNLWVPSIHCKLLDIACWIHHKYNSDKSSTYVKNGTSFDIHYGSGSLSGYLSQDTVLVPC
QSASSASALGGVKVERQVFGEATKQPGITFIAAKFDGILGMAYPRISVNNVLPVFDNLMQQKLVDQNIFSFYLSRDPDAQ
PGGELMLGGTDSKYYKGSLSYLNVTRKAYWQVHLDQVEVASGLTLCKEGCEAIVDTGTSLMVGPVDEVRELQKAIGAVPL
IQGEYMIPCEKVSTLPAITLKLGGKGYKLSPEDYTLKVSQAGKTLCLSGFMGMDIPPPSGPLWILGDVFIGRYYTVFDRD
NNRVGFAEAARL*
Variant Samples
Additional References at PubMed
PMID:24767253   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000087098 CLINVAR
  RCV000804177 CLINVAR
  RCV002336243 CLINVAR
  RCV003330432 CLINVAR
dbSNP (RS) rs587779409 CLINVAR
MedGen C0027877 CLINVAR
  C0950123 CLINVAR
  C1864669 CLINVAR
  CN169374 CLINVAR
NCBI Gene CTSD CLINVAR
OMIM 116840 CLINVAR
  610127 CLINVAR
SNOMED CT 42012007 CLINVAR