rs140563067 Rat Genome Database

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Variant: rs140563067 -  Homo sapiens

RGD ID: 10050693
RS ID: rs140563067
ClinVar ID: CV192317
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSD  PRADX  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 1,782,692
GRCh38 11 1,761,462
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.7531G>A
NC_000011.10:g.1761462C>T
NC_000011.9:g.1782692C>T
NP_001900.1:p.Pro25=
More... 		12/31/2019 synonymous variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance Ceroid storage disease; CTSD-related condition; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CTSD
Accession:NM_001909
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQPSSLLPLALCLLAAPASALVRIPLHKFTSIRRTMSEVGGSVEDLIAKGPVSKYSQAVPAVTEGPIPEVLKNYMDAQYY
GEIGIGTPPQCFTVVFDTGSSNLWVPSIHCKLLDIACWIHHKYNSDKSSTYVKNGTSFDIHYGSGSLSGYLSQDTVSVPC
QSASSASALGGVKVERQVFGEATKQPGITFIAAKFDGILGMAYPRISVNNVLPVFDNLMQQKLVDQNIFSFYLSRDPDAQ
PGGELMLGGTDSKYYKGSLSYLNVTRKAYWQVHLDQVEVASGLTLCKEGCEAIVDTGTSLMVGPVDEVRELQKAIGAVPL
IQGEYMIPCEKVSTLPAITLKLGGKGYKLSPEDYTLKVSQAGKTLCLSGFMGMDIPPPSGPLWILGDVFIGRYYTVFDRD
NNRVGFAEAARL*

Gene Symbol:PRADX
Accession:NR_182291
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000187304 CLINVAR
  RCV001078653 CLINVAR
  RCV002390429 CLINVAR
  RCV003907574 CLINVAR
dbSNP (RS) rs140563067 CLINVAR
MedGen C0027877 CLINVAR
  C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene CTSD CLINVAR
  PRADX CLINVAR
OMIM 116840 CLINVAR
SNOMED CT 42012007 CLINVAR