RGD:156372276 Rat Genome Database

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Variant: RGD:156372276 -  Homo sapiens

RGD ID: 156372276
ClinVar ID: CV1878422
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IDS  LOC106050102  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 148,571,973
GRCh38 X 149,490,442
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000202.8:c.880-2A>C
NM_006123.5:c.880-2A>C
NG_011900.3:g.19893A>C
NG_042264.2:g.3798T>G
More... 		10/04/2022 splice acceptor variant pathogenic Attenuated MPS (subtype; formerly known as mild MPS II); Hunter Syndrome; I2S deficiency; IDS deficiency; Iduronate 2-sulfatase deficiency; MPS 2; Mucopolysaccharidosis type 2; Mucopolysaccharidosis type II; Mucopolysaccharidosis with skin involvement; Severe MPS II; SIDS deficiency; Sulfoiduronate sulfatase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IDS
Accession:NM_006123
Location:INTRON

Gene Symbol:IDS
Accession:NM_001166550
Location:INTRON

Gene Symbol:IDS
Accession:NM_000202
Location:INTRON

Gene Symbol:IDS
Accession:NR_104128
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:8940265   PMID:9875019   PMID:16199547   PMID:22976768   PMID:28492532   PMID:33676511  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003066393 CLINVAR
MedGen C0026705 CLINVAR
NCBI Gene IDS CLINVAR
  LOC106050102 CLINVAR
OMIM 300823 CLINVAR
  309900 CLINVAR
SNOMED CT 70737009 CLINVAR