RGD:11626782 Rat Genome Database

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Variant: RGD:11626782 -  Homo sapiens

RGD ID: 11626782
RS ID: rs1128098
ClinVar ID: CV344266
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTNS  P2RX5-TAX1BP3  TAX1BP3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 3,566,213
GRCh38 17 3,662,919
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.3662919G>A
NC_000017.10:g.3566213G>A
NM_014604.4:c.*829C>T
NM_004937.3:c.*2550G>A
More... 		01/12/2018 3 prime utr variant benign|likely benign 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:3UTRS;EXON

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

Gene Symbol:TAX1BP3
Accession:NM_014604
Location:3UTRS;EXON

Gene Symbol:TAX1BP3
Accession:NM_001204698
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:XM_006721463
Location:3UTRS;EXON

Gene Symbol:CTNS
Accession:NM_001031681
Location:3UTRS;EXON

Gene Symbol:CTNS
Accession:NM_004937
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:NM_001374493
Location:3UTRS;EXON

Gene Symbol:P2RX5-TAX1BP3
Accession:NR_037928
Location:EXON;NON-CODING

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 RCV000270190 CLINVAR
  RCV000362589 CLINVAR
dbSNP (RS) rs1128098 CLINVAR
MedGen C2931013 CLINVAR
  C2931187 CLINVAR
NCBI Gene CTNS CLINVAR
  P2RX5-TAX1BP3 CLINVAR
  TAX1BP3 CLINVAR
OMIM 219750 CLINVAR
  219800 CLINVAR
  606272 CLINVAR
  616484 CLINVAR