RGD:11639987 Rat Genome Database

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Variant: RGD:11639987 -  Homo sapiens

RGD ID: 11639987
RS ID: rs121908128
ClinVar ID: CV268431
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTNS  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 3,563,268
GRCh38 17 3,659,974
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.11:g.3659974C>T
NC_000017.10:g.3563268C>T
NP_001026851.2:p.Asn323=
NP_004928.2:p.Asn323=
More... 		05/29/2020 synonymous variant likely benign|conflicting interpretations of pathogenicity|uncertain significance Cystine diathesis; Cystine disease; Cystine storage disease; Cystinoses; Cystinosis, adult, nonnephropathic; Cystinosis, benign, nonnephropathic; CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE; Cystinosis, ocular nonnephropathic; Inborn genetic diseases; Juvenile nephropathic cystinosis; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CTNS
Accession:XM_006721463
Location:EXON

Gene Symbol:CTNS
Accession:NM_001374493
Location:EXON

Gene Symbol:CTNS
Accession:NM_001031681
Location:EXON

Gene Symbol:CTNS
Accession:NM_001374492
Location:EXON

Gene Symbol:CTNS
Accession:XM_011523691
Location:EXON

Gene Symbol:CTNS
Accession:NM_001374496
Location:EXON

Gene Symbol:CTNS
Accession:NM_001374494
Location:EXON

Gene Symbol:CTNS
Accession:NM_004937
Location:EXON

Gene Symbol:CTNS
Accession:XM_011523692
Location:EXON

Gene Symbol:CTNS
Accession:NM_001374495
Location:EXON

Gene Symbol:CTNS
Accession:XM_047435501
Location:INTRON

Gene Symbol:CTNS
Accession:XR_007065277
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000329315 CLINVAR
  RCV001274185 CLINVAR
  RCV002519145 CLINVAR
dbSNP (RS) rs121908128 CLINVAR
MedGen C2931013 CLINVAR
  C3661900 CLINVAR
  C4316899 CLINVAR
NCBI Gene CTNS CLINVAR
OMIM 219750 CLINVAR
  219900 CLINVAR
  606272 CLINVAR
SNOMED CT 190681003 CLINVAR
  22830006 CLINVAR