RGD:12739711 Rat Genome Database

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Variant: RGD:12739711 -  Homo sapiens

RGD ID: 12739711
RS ID: rs955833453
ClinVar ID: CV358429
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTNS  CTNS-AS1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 3,558,397
GRCh38 17 3,655,103
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NC_000017.11:g.3655103T>C
NC_000017.10:g.3558397T>C
NM_004937.3:c.329+2T>C
NM_004937.2:c.329+2T>C
More... 		09/22/2023 splice donor variant pathogenic|likely pathogenic|uncertain significance 1-9 / 1 000 000 Abderhalden Lignac Kaufmann disease; Abderhalden-Kaufmann-Lignac syndrome; Cystinosin, defect of; Cystinosis, adult, nonnephropathic; Cystinosis, benign, nonnephropathic; Cystinosis, ocular nonnephropathic; Lysosomal cystine transport protein, defect of
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CTNS
Accession:XM_011523692
Location:5UTRS;INTRON

Gene Symbol:CTNS
Accession:NM_001374494
Location:5UTRS;INTRON

Gene Symbol:CTNS
Accession:NM_001374493
Location:5UTRS;INTRON

Gene Symbol:CTNS
Accession:NM_001374495
Location:5UTRS;INTRON

Gene Symbol:CTNS
Accession:NM_001374496
Location:5UTRS;INTRON

Gene Symbol:CTNS
Accession:NM_001031681
Location:INTRON

Gene Symbol:CTNS
Accession:NM_001374492
Location:INTRON

Gene Symbol:CTNS
Accession:XM_047435501
Location:INTRON

Gene Symbol:CTNS
Accession:XM_006721463
Location:INTRON

Gene Symbol:CTNS
Accession:XM_011523691
Location:INTRON

Gene Symbol:CTNS
Accession:NM_004937
Location:INTRON

Gene Symbol:CTNS-AS1
Accession:XR_934158
Location:INTRON;NON-CODING

Gene Symbol:CTNS-AS1
Accession:XR_934160
Location:INTRON;NON-CODING

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

Gene Symbol:CTNS-AS1
Accession:XR_934163
Location:INTRON;NON-CODING

Gene Symbol:CTNS-AS1
Accession:XR_934159
Location:INTRON;NON-CODING

Gene Symbol:CTNS-AS1
Accession:XR_934161
Location:INTRON;NON-CODING

Gene Symbol:CTNS-AS1
Accession:XR_934162
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000410250 CLINVAR
  RCV000779215 CLINVAR
dbSNP (RS) rs955833453 CLINVAR
MedGen C2931013 CLINVAR
  C2931187 CLINVAR
NCBI Gene CTNS CLINVAR
  CTNS-AS1 CLINVAR
OMIM 219750 CLINVAR
  219800 CLINVAR
  606272 CLINVAR