RGD:15199790 Rat Genome Database

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Variant: RGD:15199790 -  Homo sapiens

RGD ID: 15199790
RS ID: rs370769925
ClinVar ID: CV776857
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IDS  LOC106050102  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 148,582,474
GRCh38 X 149,500,943
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000202.6:c.507+6G>T
NM_001166550.4:c.237+6G>T
NM_000202.8:c.507+6G>T
NM_006123.5:c.507+6G>T
More... 		01/23/2019 intron variant likely benign 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_000202
Location:INTRON

Gene Symbol:IDS
Accession:NM_001166550
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000935202 CLINVAR
dbSNP (RS) rs370769925 CLINVAR
MedGen C0026705 CLINVAR
NCBI Gene 106050102 CLINVAR
  IDS CLINVAR
OMIM 300823 CLINVAR
  309900 CLINVAR
SNOMED CT 70737009 CLINVAR