RGD:10767909 Rat Genome Database

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Variant: RGD:10767909 -  Homo sapiens

RGD ID: 10767909
RS ID: rs864622772
ClinVar ID: CV222900
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IDS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 148,564,537
GRCh38 X 149,483,006
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_011900.3:g.27329C>T
NC_000023.11:g.149483006G>A
NC_000023.10:g.148564537G>A
NM_000202.6:c.1393C>T
More...
04/03/2019 nonsense pathogenic childhood 1-9 / 1 000 000 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; none provided; 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:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 375
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLRRRPDTTRLYDFNSYWRVHAGNFSTIPQYFKENGYVTMSVGKVFHPGISSNHTDDSPYSWSFPPYHPSSEKYENTKT
CRGPDGELHANLLCPVDVLDVPEGTLPDKQSTEQAIQLLEKMKTSASPFFLAVGYHKPHIPFRYPKEFQKLYPLENITLA
PDPEVPDGLPPVAYNPWMDIRQREDVQALNISVPYGPIPVDFQRKIRQSYFASVSYLDTQVGRLLSALDDLQLANSTIIA
FTSDHGWALGEHGEWAKYSNFDVATHVPLIFYVPGRTASLPEAGEKLFPYLDPFDSASQLMEPGRQSMDLVELVSLFPTL
AGLAGLQVPPRCPVPSFHVELCREGKNLLKHFRFRDLEEDPYLPGNPRELIAYS*YPRPSDIPQWNSDKPSLKDIKIMGY
SIRTIDYRYTVWVGFNPDEFLANFSDIHAGELYFVDSDPLQDHNMYNDSQGGDLFQLLMP*

Gene Symbol:IDS
Accession:NM_000202
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 465
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPPRTGRGLLWLGLVLSSVCVALGSETQANSTTDALNVLLIIVDDLRPSLGCYGDKLVRSPNIDQLASHSLLFQNAFAQ
QAVCAPSRVSFLTGRRPDTTRLYDFNSYWRVHAGNFSTIPQYFKENGYVTMSVGKVFHPGISSNHTDDSPYSWSFPPYHP
SSEKYENTKTCRGPDGELHANLLCPVDVLDVPEGTLPDKQSTEQAIQLLEKMKTSASPFFLAVGYHKPHIPFRYPKEFQK
LYPLENITLAPDPEVPDGLPPVAYNPWMDIRQREDVQALNISVPYGPIPVDFQRKIRQSYFASVSYLDTQVGRLLSALDD
LQLANSTIIAFTSDHGWALGEHGEWAKYSNFDVATHVPLIFYVPGRTASLPEAGEKLFPYLDPFDSASQLMEPGRQSMDL
VELVSLFPTLAGLAGLQVPPRCPVPSFHVELCREGKNLLKHFRFRDLEEDPYLPGNPRELIAYS*YPRPSDIPQWNSDKP
SLKDIKIMGYSIRTIDYRYTVWVGFNPDEFLANFSDIHAGELYFVDSDPLQDHNMYNDSQGGDLFQLLMP*

Gene Symbol:IDS
Accession:NM_006123
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:8830188   PMID:8940265   PMID:17063374   PMID:17284421   PMID:18414213   PMID:25741868   PMID:27246110   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000205510 CLINVAR
  RCV001008649 CLINVAR
dbSNP (RS) rs864622772 CLINVAR
MedGen C0026705 CLINVAR
  C3661900 CLINVAR
NCBI Gene IDS CLINVAR
OMIM 300823 CLINVAR
  309900 CLINVAR
SNOMED CT 70737009 CLINVAR