RGD:11665239 Rat Genome Database

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Variant: RGD:11665239 -  Homo sapiens

RGD ID: 11665239
RS ID: rs8191497
ClinVar ID: CV342867
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APRT  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 88,876,059
GRCh38 16 88,809,651
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_000485.3:c.*47T>C
NM_001030018.2:c.*51T>C
NG_028266.1:g.10874A>G
NM_000485.2:c.*47T>C
More... 		10/19/2018 3 prime utr variant likely benign all ages 1-9 / 100 000 Dihydroxyadeninuria; MPS IV; Mucopolysaccharidosis type 4; Mucopolysaccharidosis, Type IV; NEPHROLITHIASIS, DHA; none provided; UROLITHIASIS, 2,8-DIHYDROXYADENINE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:APRT
Accession:NM_001030018
Location:3UTRS;EXON

Gene Symbol:APRT
Accession:NM_000485
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000261137 CLINVAR
  RCV000350708 CLINVAR
  RCV001575837 CLINVAR
dbSNP (RS) rs8191497 CLINVAR
MedGen C0026707 CLINVAR
  C0268120 CLINVAR
  C3661900 CLINVAR
NCBI Gene APRT CLINVAR
  GALNS CLINVAR
OMIM 102600 CLINVAR
  612222 CLINVAR
  614723 CLINVAR
SNOMED CT 378007 CLINVAR