RGD:11050332 Rat Genome Database

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Variant: RGD:11050332 -  Homo sapiens

RGD ID: 11050332
RS ID: rs758452450
ClinVar ID: CV224719
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IDUA  SLC26A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 981,661
GRCh38 4 987,873
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.5877G>A
NC_000004.12:g.987873G>A
NC_000004.11:g.981661G>A
NR_110313.1:n.311G>A
More... 		12/03/2019 3 prime utr variant|missense variant 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:SLC26A1
Accession:NM_022042
Location:3UTRS;EXON

Gene Symbol:SLC26A1
Accession:NM_213613
Location:3UTRS;EXON

Gene Symbol:IDUA
Accession:XM_047415650
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 75
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPLRPRAALLALLASLLAAPPVAPAEAPHLVHVDAARALWPLRRFWRSTGFCPPLPHSQADQYVLSWDQQLNLTYVGAV
PHRGIKQVRTHWLLELVTTRGSTGRGLSYNFTHLDGYLDLLRENQLLPGFELMGSASGHFTDFEDKQQVFEWKDLVSSLA
RRYIGRYGLAHVSKWNFETWNEPDHHDFDNVSMTMQGFLNYYDACSEGLRAASPALRLGGPGDSFHTPPRSPLSWGLLRH
CHDGTNFFTGEAGVRLDYISLHRKGARSSISILEQEKVVAQQIRQLFPKFADTPIYNDEADPLVGWSLPQPWRADVTYAA
MVVKVIAQHQNLLLANTTSAFPYALLSNDNAFLSYHPHPFAQRTLTARFQVNNTRPPHVQLLRKPVLTAMGLLALLDEEQ
LWAEVSQAGTVLDSNHTVGVLASAHRPQGPADAWRAAVLIYASDDTRAHPNRSVAVTLRLRGVPPGPGLVYVTRYLDNGL
CSPDGEWRRLGRPVFPTAEQFRRMRAAEVGGPRRGEGPGRAGVPGGWGPGRGLRGGVGGRWSGGPGAFALRSGRASPAPL
ENPEDRPLRPGPGGRGAPPLTRRRPPDPAPRAAAAVAFAGARVCAPREAARAGHAAPRPAPDPRAAGSGLVG*

Gene Symbol:IDUA
Accession:XM_047415649
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 75
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPLRPRAALLALLASLLAAPPVAPAEAPHLVHVDAARALWPLRRFWRSTGFCPPLPHSQADQYVLSWDQQLNLTYVGAV
PHRGIKQVRTHWLLELVTTRGSTGRGLSYNFTHLDGYLDLLRENQLLPGFELMGSASGHFTDFEDKQQVFEWKDLVSSLA
RRYIGRYGLAHVSKWNFETWNEPDHHDFDNVSMTMQGFLNYYDACSEGLRAASPALRLGGPGDSFHTPPRSPLSWGLLRH
CHDGTNFFTGEAGVRLDYISLHRKGARSSISILEQEKVVAQQIRQLFPKFADTPIYNDEADPLVGWSLPQPWRADVTYAA
MVVKVIAQHQNLLLANTTSAFPYALLSNDNAFLSYHPHPFAQRTLTARFQVNNTRPPHVQLLRKPVLTAMGLLALLDEEQ
LWAEVSQAGTVLDSNHTVGVLASAHRPQGPADAWRAAVLIYASDDTRAHPNRSVAVTLRLRGVPPGPGLVYVTRYLDNGL
CSPDGEWRRLGRPVFPTAEQFRRMRAAEDPVAAAPRPLPAGGRLTLRPALRLPSLLLVHVCARPEKPPGQVTRLRALPLT
QGQLVLVWSDEHVGSKCLWTYEIQFSQDGKAYTPVSRKPSTFNLFVFSPDTGAVSGSYRVRALDYWARPGPFSDPVPYLE
VPVPRGPPSPGNP*

Gene Symbol:IDUA
Accession:NM_000203
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 75
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPLRPRAALLALLASLLAAPPVAPAEAPHLVHVDAARALWPLRRFWRSTGFCPPLPHSQADQYVLSWDQQLNLTYVGAV
PHRGIKQVRTHWLLELVTTRGSTGRGLSYNFTHLDGYLDLLRENQLLPGFELMGSASGHFTDFEDKQQVFEWKDLVSSLA
RRYIGRYGLAHVSKWNFETWNEPDHHDFDNVSMTMQGFLNYYDACSEGLRAASPALRLGGPGDSFHTPPRSPLSWGLLRH
CHDGTNFFTGEAGVRLDYISLHRKGARSSISILEQEKVVAQQIRQLFPKFADTPIYNDEADPLVGWSLPQPWRADVTYAA
MVVKVIAQHQNLLLANTTSAFPYALLSNDNAFLSYHPHPFAQRTLTARFQVNNTRPPHVQLLRKPVLTAMGLLALLDEEQ
LWAEVSQAGTVLDSNHTVGVLASAHRPQGPADAWRAAVLIYASDDTRAHPNRSVAVTLRLRGVPPGPGLVYVTRYLDNGL
CSPDGEWRRLGRPVFPTAEQFRRMRAAEDPVAAAPRPLPAGGRLTLRPALRLPSLLLVHVCARPEKPPGQVTRLRALPLT
QGQLVLVWSDEHVGSKCLWTYEIQFSQDGKAYTPVSRKPSTFNLFVFSPDTGAVSGSYRVRALDYWARPGPFSDPVPYLE
VPVPRGPPSPGNP*

Gene Symbol:IDUA
Accession:XM_047415648
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 75
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPLRPRAALLALLASLLAAPPVAPAEAPHLVHVDAARALWPLRRFWRSTGFCPPLPHSQADQYVLSWDQQLNLTYVGAV
PHRGIKQVRTHWLLELVTTRGSTGRGLSYNFTHLDGYLDLLRENQLLPGFELMGSASGHFTDFEDKQQVFEWKDLVSSLA
RRYIGRYGLAHVSKWNFETWNEPDHHDFDNVSMTMQGFLNYYDACSEGLRAASPALRLGGPGDSFHTPPRSPLSWGLLRH
CHDGTNFFTGEAGVRLDYISLHRKGARSSISILEQEKVVAQQIRQLFPKFADTPIYNDEADPLVGWSLPQPWRADVTYAA
MVVKVIAQHQNLLLANTTSAFPYALLSNDNAFLSYHPHPFAQRTLTARFQVNNTRPPHVQLLRKPVLTAMGLLALLDEEQ
LWAEVSQAGTVLDSNHTVGVLASAHRPQGPADAWRAAVLIYASDDTRAHPNRSVAVTLRLRGVPPGPGLVYVTRYLDNGL
CSPDGEWRRLGRPVFPTAEQFRRMRAAEDPVAAAPRPLPAGGRLTLRPALRLPSLLLVHVCARPEKPPGQVTRLRALPLT
QGQLVLVWSDEHVGSKCLWTYEIQFSQDGKAYTPVSRKPSTFNLFVFSPDTGAVSGSYRVRALDYWARPGPFSDPVPYLE
VPVPRGPPSPGNP*

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

Gene Symbol:SLC26A1
Accession:XR_007096347
Location:EXON;NON-CODING

Gene Symbol:IDUA
Accession:XM_047415651
Location:INTRON

Gene Symbol:IDUA
Accession:XM_011513461
Location:INTRON

Gene Symbol:IDUA
Accession:NM_001363576
Location:INTRON

Gene Symbol:SLC26A1
Accession:NM_134425
Location:INTRON

Gene Symbol:IDUA
Accession:XM_047415652
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:7550232   PMID:8019563   PMID:8680403   PMID:11735025   PMID:16438163   PMID:25741868   PMID:27146977   PMID:28492532   PMID:28752568   PMID:29843745  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000208613 CLINVAR
  RCV000670756 CLINVAR
  RCV001781626 CLINVAR
dbSNP (RS) rs758452450 CLINVAR
MedGen C0023786 CLINVAR
  C0086795 CLINVAR
  C3661900 CLINVAR
NCBI Gene IDUA CLINVAR
  SLC26A1 CLINVAR
OMIM 252800 CLINVAR
  607014 CLINVAR
  610130 CLINVAR