RGD:28898168 Rat Genome Database

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Variant: RGD:28898168 -  Homo sapiens

RGD ID: 28898168
RS ID: rs182280281
ClinVar ID: CV877308
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTNS  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 3,565,745
GRCh38 17 3,662,451
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.10:g.3565745C>T
NM_001374496.1:c.*2082C>T
NM_004937.3:c.*2082C>T
NM_004937.2:c.*2082C>T
More... 		01/13/2018 3 prime utr variant uncertain significance 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:NM_001031681
Location:3UTRS;EXON

Gene Symbol:CTNS
Accession:XM_006721463
Location:3UTRS;EXON

Gene Symbol:CTNS
Accession:XM_011523691
Location:3UTRS;EXON

Gene Symbol:CTNS
Accession:NM_001374496
Location:3UTRS;EXON

Gene Symbol:CTNS
Accession:NM_001374493
Location:3UTRS;EXON

Gene Symbol:CTNS
Accession:NM_001374494
Location:3UTRS;EXON

Gene Symbol:CTNS
Accession:NM_004937
Location:3UTRS;EXON

Gene Symbol:CTNS
Accession:XM_011523692
Location:3UTRS;EXON

Gene Symbol:CTNS
Accession:NM_001374495
Location:3UTRS;EXON

Gene Symbol:CTNS
Accession:NM_001374492
Location:3UTRS;EXON

Gene Symbol:CTNS
Accession:XM_047435501
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001123473 CLINVAR
  RCV001123474 CLINVAR
dbSNP (RS) rs182280281 CLINVAR
MedGen C2931013 CLINVAR
  C2931187 CLINVAR
NCBI Gene CTNS CLINVAR
OMIM 219750 CLINVAR
  219800 CLINVAR
  606272 CLINVAR