RGD:15181118 Rat Genome Database

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Variant: RGD:15181118 -  Homo sapiens

RGD ID: 15181118
RS ID: rs369735286
ClinVar ID: CV778699
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IDS  LOC127898441  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 148,586,558
GRCh38 X 149,505,028
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001166550.4:c.-124+7C>T
NM_000202.8:c.103+7C>T
NM_006123.5:c.103+7C>T
NG_011900.3:g.5307C>T
More... 		12/12/2021 intron variant benign|likely benign Attenuated MPS (subtype; formerly known as mild MPS II); Heparan sulfate sulfatase deficiency; Hunter Syndrome; I2S deficiency; IDS deficiency; Iduronate 2-sulfatase deficiency; MPS 2; MPS 3A; MPS III A; Mucopoly-saccharidosis type 3A; Mucopolysaccharidosis type 2; Mucopolysaccharidosis type II; Mucopolysaccharidosis type IIIA (Sanfilippo A); Mucopolysaccharidosis with skin involvement; MUCOPOLYSACCHARIDOSIS, TYPE IIIA, ATTENUATED; none provided; Sanfilippo syndrome A; Severe MPS II; SIDS deficiency; SULFAMIDASE DEFICIENCY; Sulfoiduronate sulfatase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IDS
Accession:NM_001166550
Location:5UTRS;INTRON

Gene Symbol:IDS
Accession:NM_006123
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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000951903 CLINVAR
  RCV001827042 CLINVAR
  RCV003432957 CLINVAR
dbSNP (RS) rs369735286 CLINVAR
MedGen C0026705 CLINVAR
  C0086647 CLINVAR
  C3661900 CLINVAR
NCBI Gene IDS CLINVAR
OMIM 252900 CLINVAR
  300823 CLINVAR
  309900 CLINVAR
SNOMED CT 41572006 CLINVAR
  70737009 CLINVAR