RGD:28899882 Rat Genome Database

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Variant: RGD:28899882 -  Homo sapiens

RGD ID: 28899882
RS ID: rs1845759906
ClinVar ID: CV867664
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSD  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 1,775,070
GRCh38 11 1,753,840
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.1034A>G
NC_000011.10:g.1753840T>C
NC_000011.9:g.1775070T>C
NM_001909.4:c.1034A>G
More...
01/12/2018 missense variant uncertain significance 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: K to R (nonsynonymous)
Amino Acid Position: 345
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQPSSLLPLALCLLAAPASALVRIPLHKFTSIRRTMSEVGGSVEDLIAKGPVSKYSQAVPAVTEGPIPEVLKNYMDAQYY
GEIGIGTPPQCFTVVFDTGSSNLWVPSIHCKLLDIACWIHHKYNSDKSSTYVKNGTSFDIHYGSGSLSGYLSQDTVSVPC
QSASSASALGGVKVERQVFGEATKQPGITFIAAKFDGILGMAYPRISVNNVLPVFDNLMQQKLVDQNIFSFYLSRDPDAQ
PGGELMLGGTDSKYYKGSLSYLNVTRKAYWQVHLDQVEVASGLTLCKEGCEAIVDTGTSLMVGPVDEVRELQKAIGAVPL
IQGEYMIPCEKVSTLPAITLKLGGRGYKLSPEDYTLKVSQAGKTLCLSGFMGMDIPPPSGPLWILGDVFIGRYYTVFDRD
NNRVGFAEAARL*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001103555 CLINVAR
  RCV002298872 CLINVAR
dbSNP (RS) rs1845759906 CLINVAR
MedGen C0027877 CLINVAR
  C1864669 CLINVAR
NCBI Gene CTSD CLINVAR
OMIM 116840 CLINVAR
  610127 CLINVAR
SNOMED CT 42012007 CLINVAR