RGD:13787751 Rat Genome Database

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Variant: RGD:13787751 -  Homo sapiens

RGD ID: 13787751
RS ID: rs762779421
ClinVar ID: CV543284
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IDUA  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 995,769
GRCh38 4 1,001,981
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.19985G>A
NC_000004.12:g.1001981G>A
NC_000004.11:g.995769G>A
NM_000203.3:c.793-1G>A
More... 		02/21/2020 splice acceptor variant pathogenic|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; none provided; 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_047415648
Location:INTRON

Gene Symbol:IDUA
Accession:XM_047415649
Location:INTRON

Gene Symbol:IDUA
Accession:NM_000203
Location:INTRON

Gene Symbol:IDUA
Accession:XM_011513461
Location:INTRON

Gene Symbol:IDUA
Accession:XM_047415651
Location:INTRON

Gene Symbol:IDUA
Accession:NM_001363576
Location:INTRON

Gene Symbol:IDUA
Accession:XM_047415650
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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000673620 CLINVAR
  RCV001065448 CLINVAR
  RCV001784285 CLINVAR
dbSNP (RS) rs762779421 CLINVAR
MedGen C0023786 CLINVAR
  C0086795 CLINVAR
  C3661900 CLINVAR
NCBI Gene IDUA CLINVAR
OMIM 252800 CLINVAR
  607014 CLINVAR