RGD:13789053 Rat Genome Database

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Variant: RGD:13789053 -  Homo sapiens

RGD ID: 13789053
RS ID: rs1293215555
ClinVar ID: CV543276
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IDUA  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 995,352
GRCh38 4 1,001,564
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008103.1:g.19568G>A
NC_000004.12:g.1001564G>A
NC_000004.11:g.995352G>A
NM_000203.3:c.589+1G>A
More... 		05/02/2018 splice donor variant likely pathogenic Alpha-L-Iduronidase deficiency; Attenuated MPS I (subtype); Gargoylism, Hurler Syndrome; Hurler syndrome (former subtype); Hurler-Scheie syndrome (former subtype); IDUA deficiency; MPS 1; MPS I; Mucopolysaccharidosis type I; MUCOPOLYSACCHARIDOSIS TYPE IH; Scheie syndrome (former subtype; formerly known as Mucopoly-saccharidosis type V); Severe MPS I (subtype)
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IDUA
Accession:XM_047415652
Location:5UTRS;INTRON

Gene Symbol:IDUA
Accession:XM_047415649
Location:INTRON

Gene Symbol:IDUA
Accession:NM_000203
Location:INTRON

Gene Symbol:IDUA
Accession:XM_047415648
Location:INTRON

Gene Symbol:IDUA
Accession:XM_047415650
Location:INTRON

Gene Symbol:IDUA
Accession:XM_047415651
Location:INTRON

Gene Symbol:IDUA
Accession:NM_001363576
Location:INTRON

Gene Symbol:IDUA
Accession:XM_011513461
Location:INTRON

Gene Symbol:IDUA
Accession:NR_110313
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:11735025   PMID:16199547   PMID:21480867   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000674301 CLINVAR
  RCV001861838 CLINVAR
dbSNP (RS) rs1293215555 CLINVAR
MedGen C0023786 CLINVAR
  C0086795 CLINVAR
NCBI Gene IDUA CLINVAR
OMIM 252800 CLINVAR
  607014 CLINVAR