RGD:155704144 Rat Genome Database

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Variant: RGD:155704144 -  Homo sapiens

RGD ID: 155704144
ClinVar ID: CV1848958
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSD  PRADX  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 1,782,657
GRCh38 11 1,761,427
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.110C>T
NG_008655.1:g.7566C>T
NC_000011.10:g.1761427G>A
NC_000011.9:g.1782657G>A
More... 		11/01/2022 missense variant uncertain significance Ceroid storage disease
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: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQPSSLLPLALCLLAAPASALVRIPLHKFTSIRRTMLEVGGSVEDLIAKGPVSKYSQAVPAVTEGPIPEVLKNYMDAQYY
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 RCV002428929 CLINVAR
  RCV003102113 CLINVAR
MedGen C0027877 CLINVAR
  C0950123 CLINVAR
NCBI Gene CTSD CLINVAR
  PRADX CLINVAR
OMIM 116840 CLINVAR
SNOMED CT 42012007 CLINVAR