RGD:13611797 Rat Genome Database

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Variant: RGD:13611797 -  Homo sapiens

RGD ID: 13611797
RS ID: rs375952052
ClinVar ID: CV531468
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTNS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 3,563,518
GRCh38 17 3,660,224
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.3660224G>A
NC_000017.10:g.3563518G>A
NG_012489.2:g.28757G>A
NM_001374496.1:c.530-12G>A
More... 		03/07/2022 intron variant pathogenic|likely pathogenic Abderhalden Lignac Kaufmann disease; Abderhalden-Kaufmann-Lignac syndrome; Cystine diathesis; Cystine disease; Cystine storage disease; Cystinoses; Cystinosin, defect of; Cystinosis, adult, nonnephropathic; Cystinosis, benign, nonnephropathic; CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE; Cystinosis, ocular nonnephropathic; Inborn genetic diseases; Juvenile nephropathic cystinosis; Lysosomal cystine transport protein, defect of

Variant Details
Variant Transcripts
Gene Symbol:CTNS
Accession:NM_001374496
Location:INTRON

Gene Symbol:CTNS
Accession:XM_011523691
Location:INTRON

Gene Symbol:CTNS
Accession:XM_047435501
Location:INTRON

Gene Symbol:CTNS
Accession:NM_004937
Location:INTRON

Gene Symbol:CTNS
Accession:NM_001374494
Location:INTRON

Gene Symbol:CTNS
Accession:NM_001031681
Location:INTRON

Gene Symbol:CTNS
Accession:NM_001374492
Location:INTRON

Gene Symbol:CTNS
Accession:NM_001374493
Location:INTRON

Gene Symbol:CTNS
Accession:NM_001374495
Location:INTRON

Gene Symbol:CTNS
Accession:XM_011523692
Location:INTRON

Gene Symbol:CTNS
Accession:XM_006721463
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:9537412   PMID:10556299   PMID:12442267   PMID:22450360   PMID:25326109   PMID:25741868   PMID:28492532   PMID:35738466  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000664494 CLINVAR
  RCV001829749 CLINVAR
  RCV001843534 CLINVAR
  RCV002528837 CLINVAR
dbSNP (RS) rs375952052 CLINVAR
MedGen C2931013 CLINVAR
  C2931187 CLINVAR
  C3537440 CLINVAR
  C4316899 CLINVAR
NCBI Gene CTNS CLINVAR
OMIM 219750 CLINVAR
  219800 CLINVAR
  219900 CLINVAR
  606272 CLINVAR
SNOMED CT 190681003 CLINVAR
  22830006 CLINVAR
  62332007 CLINVAR