RGD:127235724 Rat Genome Database

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Variant: RGD:127235724 -  Homo sapiens

RGD ID: 127235724
RS ID: rs2150889009
ClinVar ID: CV1064154
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTNS  LOC105371493  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 3,543,561
GRCh38 17 3,640,267
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001374493.1:c.-296G>T
NP_004928.2:p.Glu21Ter
NM_001374495.1:c.-217G>T
NM_001374496.1:c.-296+2951G>T
More... 		03/07/2023 5 prime utr variant pathogenic|likely pathogenic Abderhalden Lignac Kaufmann disease; Abderhalden-Kaufmann-Lignac syndrome; 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_001374494
Location:5UTRS;INTRON

Gene Symbol:CTNS
Accession:XM_011523692
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:XM_047435501
Location:INTRON

Gene Symbol:CTNS
Accession:NM_004937
Location:INTRON

Gene Symbol:CTNS
Accession:NM_001374492
Location:INTRON

Gene Symbol:CTNS
Accession:NM_001031681
Location:INTRON

Gene Symbol:CTNS
Accession:XM_011523691
Location:INTRON

Gene Symbol:CTNS
Accession:XM_006721463
Location:INTRON

Gene Symbol:LOC105371493
Accession:XR_001752759
Location:INTRON;NON-CODING

Gene Symbol:LOC105371493
Accession:XR_007065579
Location:INTRON;NON-CODING

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

Variant Samples
Additional References at PubMed
PMID:9537412   PMID:25741868   PMID:27102039   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002551566 CLINVAR
  RCV003473988 CLINVAR
dbSNP (RS) rs2150889009 CLINVAR
MedGen C2931013 CLINVAR
  C2931187 CLINVAR
NCBI Gene CTNS CLINVAR
OMIM 219750 CLINVAR
  219800 CLINVAR
  219900 CLINVAR
  606272 CLINVAR
SNOMED CT 22830006 CLINVAR