RGD:155955747 Rat Genome Database

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Variant: RGD:155955747 -  Homo sapiens

RGD ID: 155955747
ClinVar ID: CV2162611
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IDUA  LOC127399736  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 997,132
GRCh38 4 1,003,344
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000004.12:g.1003344G>A
LRG_1277t1:c.1525-1G>A
NM_001363576.1:c.1129-1G>A
NM_000203.5:c.1525-1G>A
More... 		03/10/2022 splice acceptor variant likely pathogenic 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:XM_047415650
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 571
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPLRPRAALLALLASLLAAPPVAPAEAPHLVHVDAARALWPLRRFWRSTGFCPPLPHSQADQYVLSWDQQLNLAYVGAV
PHRGIKQVRTHWLLELVTTRGSTGRGLSYNFTHLDGYLDLLRENQLLPGFELMGSASGHFTDFEDKQQVFEWKDLVSSLA
RRYIGRYGLAHVSKWNFETWNEPDHHDFDNVSMTMQGFLNYYDACSEGLRAASPALRLGGPGDSFHTPPRSPLSWGLLRH
CHDGTNFFTGEAGVRLDYISLHRKGARSSISILEQEKVVAQQIRQLFPKFADTPIYNDEADPLVGWSLPQPWRADVTYAA
MVVKVIAQHQNLLLANTTSAFPYALLSNDNAFLSYHPHPFAQRTLTARFQVNNTRPPHVQLLRKPVLTAMGLLALLDEEQ
LWAEVSQAGTVLDSNHTVGVLASAHRPQGPADAWRAAVLIYASDDTRAHPNRSVAVTLRLRGVPPGPGLVYVTRYLDNGL
CSPDGEWRRLGRPVFPTAEQFRRMRAAEVGGPRRGEGPGRAGVPGGWGPGRGLRGGVGGRWSGGPGAFALRSGRASPAPL
ENPEDRPLRPRPGGRGAPPLTRRRPPDPAPRAAAAVAFAGARVCAPREAARAGHAAPRPAPDPRAAGSGLVG*

Gene Symbol:IDUA
Accession:XM_011513461
Location:INTRON

Gene Symbol:IDUA
Accession:XM_047415652
Location:INTRON

Gene Symbol:IDUA
Accession:NM_001363576
Location:INTRON

Gene Symbol:IDUA
Accession:XM_047415648
Location:INTRON

Gene Symbol:IDUA
Accession:NM_000203
Location:INTRON

Gene Symbol:IDUA
Accession:XM_047415649
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:11735025   PMID:16199547   PMID:21480867   PMID:24798265   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003015089 CLINVAR
MedGen C0023786 CLINVAR
NCBI Gene IDUA CLINVAR
OMIM 252800 CLINVAR