RGD:12739139 Rat Genome Database

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Variant: RGD:12739139 -  Homo sapiens

RGD ID: 12739139
RS ID: rs1057517263
ClinVar ID: CV356990
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSK  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 150,778,577
GRCh38 1 150,806,101
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.7236G>A
NC_000001.11:g.150806101C>T
NC_000001.10:g.150778577C>T
NM_000396.4:c.243+1G>A
More... 		09/22/2016 splice donor variant likely pathogenic all ages 1-9 / 1 000 000 Pycnodysostosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CTSK
Accession:NM_000396
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000408975 CLINVAR
dbSNP (RS) rs1057517263 CLINVAR
MedGen C0238402 CLINVAR
NCBI Gene CTSK CLINVAR
OMIM 265800 CLINVAR
  601105 CLINVAR
SNOMED CT 89647000 CLINVAR