RGD:8560475 Rat Genome Database

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Variant: RGD:8560475 -  Homo sapiens

RGD ID: 8560475
RS ID: rs74315303
ClinVar ID: CV23461
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSK  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 150,772,083
GRCh38 1 150,799,607
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_011848.1:g.13730C>T
NC_000001.11:g.150799607G>A
NC_000001.10:g.150772083G>A
NP_000387.1:p.Arg241Ter
More... 		12/23/2019 nonsense|stop-gain pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters all ages|variable 1-9 / 1 000 000 none provided; Pycnodysostosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CTSK
Accession:NM_000396
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 241
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWGLKVLLLPVVSFALYPEEILDTHWELWKKTHRKQYNNKVDEISRRLIWEKNLKYISIHNLEASLGVHTYELAMNHLGD
MTSEEVVQKMTGLKVPLSHSRSNDTLYIPEWEGRAPDSVDYRKKGYVTPVKNQGQCGSCWAFSSVGALEGQLKKKTGKLL
NLSPQNLVDCVSENDGCGGGYMTNAFQYVQKNRGIDSEDAYPYVGQEESCMYNPTGKAAKCRGYREIPEGNEKALKRAVA
*VGPVSVAIDASLTSFQFYSKGVYYDESCNSDNLNHAVLAVGYGIQKGNKHWIIKNSWGENWGNKGYILMARNKNNACGI
ANLASFPKM*
Variant Samples
Additional References at PubMed
PMID:7663522   PMID:8703060   PMID:8938428   PMID:10074491   PMID:10571690   PMID:12125807   PMID:12874701   PMID:17397052   PMID:21217630   PMID:21569238   PMID:23786531   PMID:25741868  
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000008933 CLINVAR
  RCV001036147 CLINVAR
dbSNP (RS) rs74315303 CLINVAR
MedGen C0238402 CLINVAR
  C3661900 CLINVAR
NCBI Gene CTSK CLINVAR
OMIM 265800 CLINVAR
  601105 CLINVAR
OMIM Allele 601105.0003 CLINVAR
SNOMED CT 89647000 CLINVAR