RGD:402468005 Rat Genome Database

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Variant: RGD:402468005 -  Homo sapiens

RGD ID: 402468005
ClinVar ID: CV3010942
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IDS  LOC106050102  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 148,579,632
GRCh38 X 149,498,101
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.438+6G>T
NM_000202.8:c.708+6G>T
NM_006123.5:c.708+6G>T
NG_042264.2:g.11457C>A
More... 		11/27/2023 intron variant uncertain significance 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_001166550
Location: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:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003623326 CLINVAR
MedGen C0026705 CLINVAR
NCBI Gene IDS CLINVAR
  LOC106050102 CLINVAR
OMIM 300823 CLINVAR
  309900 CLINVAR
SNOMED CT 70737009 CLINVAR