RGD:28894692 Rat Genome Database

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Variant: RGD:28894692 -  Homo sapiens

RGD ID: 28894692
RS ID: rs934115207
ClinVar ID: CV895978
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IDUA  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 997,330
GRCh38 4 1,003,542
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001363576.1:c.1255-7C>A
NG_008103.1:g.21546C>A
NC_000004.11:g.997330C>A
NM_000203.5:c.1651-7C>A
More... 		11/01/2023 intron variant conflicting interpretations of pathogenicity|uncertain significance Alpha-L-Iduronidase deficiency; Attenuated MPS I (subtype); Hurler syndrome (former subtype); Hurler-Scheie syndrome (former subtype); IDUA deficiency; MPS 1; MPS I; Mucopolysaccharidosis type I; 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:NM_000203
Location:INTRON

Gene Symbol:IDUA
Accession:XM_011513461
Location:INTRON

Gene Symbol:IDUA
Accession:NM_001363576
Location:INTRON

Gene Symbol:IDUA
Accession:XM_047415649
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:XM_047415652
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001153996 CLINVAR
dbSNP (RS) rs934115207 CLINVAR
MedGen C0023786 CLINVAR
NCBI Gene IDUA CLINVAR
OMIM 252800 CLINVAR