RGD:10768671 Rat Genome Database

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Variant: RGD:10768671 -  Homo sapiens

RGD ID: 10768671
RS ID: rs113993955
ClinVar ID: CV222920
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IDS  LOC127898440  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 148,585,746
GRCh38 X 149,504,216
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
NR_104128.2:n.350T>C
NG_011900.3:g.6119T>C
NC_000023.11:g.149504216A>G
NC_000023.10:g.148585746A>G
More... 		09/05/2021 5 prime utr variant|missense variant 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:5UTRS;EXON

Gene Symbol:IDS
Accession:NM_000202
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPPRTGRGLLWLGLVLSSVCVALGSETQANSTTDALNVLLIIVDDLRPSLGCYGDKLVRPPNIDQLASHSLLFQNAFAQ
QAVCAPSRVSFLTGRRPDTTRLYDFNSYWRVHAGNFSTIPQYFKENGYVTMSVGKVFHPGISSNHTDDSPYSWSFPPYHP
SSEKYENTKTCRGPDGELHANLLCPVDVLDVPEGTLPDKQSTEQAIQLLEKMKTSASPFFLAVGYHKPHIPFRYPKEFQK
LYPLENITLAPDPEVPDGLPPVAYNPWMDIRQREDVQALNISVPYGPIPVDFQRKIRQSYFASVSYLDTQVGRLLSALDD
LQLANSTIIAFTSDHGWALGEHGEWAKYSNFDVATHVPLIFYVPGRTASLPEAGEKLFPYLDPFDSASQLMEPGRQSMDL
VELVSLFPTLAGLAGLQVPPRCPVPSFHVELCREGKNLLKHFRFRDLEEDPYLPGNPRELIAYSQYPRPSDIPQWNSDKP
SLKDIKIMGYSIRTIDYRYTVWVGFNPDEFLANFSDIHAGELYFVDSDPLQDHNMYNDSQGGDLFQLLMP*

Gene Symbol:IDS
Accession:NM_006123
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPPRTGRGLLWLGLVLSSVCVALGSETQANSTTDALNVLLIIVDDLRPSLGCYGDKLVRPPNIDQLASHSLLFQNAFAQ
QAVCAPSRVSFLTGRRPDTTRLYDFNSYWRVHAGNFSTIPQYFKENGYVTMSVGKVFHPGISSNHTDDSPYSWSFPPYHP
SSEKYENTKTCRGPDGELHANLLCPVDVLDVPEGTLPDKQSTEQAIQLLEKMKTSASPFFLAVGYHKPHIPFRYPKEFQK
LYPLENITLAPDPEVPDGLPPVAYNPWMDIRQREDVQALNISVPYGPIPVDFQRKIRQSYFASVSYLDTQVGRLLSALDD
LQLANSTIIAFTSDHGFLMRTNT*

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

Variant Samples
Additional References at PubMed
PMID:18414213   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000206790 CLINVAR
  RCV001092169 CLINVAR
dbSNP (RS) rs113993955 CLINVAR
MedGen C0026705 CLINVAR
  C3661900 CLINVAR
NCBI Gene IDS CLINVAR
OMIM 300823 CLINVAR
  309900 CLINVAR
SNOMED CT 70737009 CLINVAR