RGD:14720482 Rat Genome Database

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Variant: RGD:14720482 -  Homo sapiens

RGD ID: 14720482
RS ID: rs12938401
ClinVar ID: CV667879
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTNS  CTNS-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 3,558,700
GRCh38 17 3,655,406
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001031681.3:c.461+54G>A
NM_001374492.1:c.461+54G>A
NM_004937.3:c.461+54G>A
NG_012489.2:g.23939G>A
More... 		09/04/2023 intron variant benign 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; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CTNS-AS1
Accession:XR_934162
Location:EXON;NON-CODING

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

Gene Symbol:CTNS
Accession:NM_001031681
Location:INTRON

Gene Symbol:CTNS
Accession:XM_011523692
Location:INTRON

Gene Symbol:CTNS
Accession:NM_001374494
Location:INTRON

Gene Symbol:CTNS
Accession:NM_004937
Location:INTRON

Gene Symbol:CTNS
Accession:NM_001374496
Location:INTRON

Gene Symbol:CTNS
Accession:NM_001374495
Location:INTRON

Gene Symbol:CTNS
Accession:XM_006721463
Location:INTRON

Gene Symbol:CTNS
Accession:XM_011523691
Location:INTRON

Gene Symbol:CTNS
Accession:XM_047435501
Location:INTRON

Gene Symbol:CTNS
Accession:NM_001374492
Location:INTRON

Gene Symbol:CTNS
Accession:NM_001374493
Location:INTRON

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_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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000831243 CLINVAR
  RCV001543021 CLINVAR
  RCV001543022 CLINVAR
dbSNP (RS) rs12938401 CLINVAR
MedGen C2931013 CLINVAR
  C2931187 CLINVAR
  C3661900 CLINVAR
NCBI Gene CTNS CLINVAR
  CTNS-AS1 CLINVAR
OMIM 219750 CLINVAR
  219800 CLINVAR
  606272 CLINVAR