RGD:28894690 Rat Genome Database

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Variant: RGD:28894690 -  Homo sapiens

RGD ID: 28894690
RS ID: rs1715248390
ClinVar ID: CV895977
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IDUA  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 997,270
GRCh38 4 1,003,482
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.1254+12T>C
NM_000203.5:c.1650+12T>C
NG_008103.1:g.21486T>C
NC_000004.12:g.1003482T>C
More... 		12/20/2023 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_001363576
Location:INTRON

Gene Symbol:IDUA
Accession:XM_047415649
Location:INTRON

Gene Symbol:IDUA
Accession:XM_047415650
Location:INTRON

Gene Symbol:IDUA
Accession:XM_047415652
Location:INTRON

Gene Symbol:IDUA
Accession:XM_047415648
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:NR_110313
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001153995 CLINVAR
dbSNP (RS) rs1715248390 CLINVAR
MedGen C0023786 CLINVAR
NCBI Gene IDUA CLINVAR
OMIM 252800 CLINVAR