RGD:127257844 Rat Genome Database

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Variant: RGD:127257844 -  Homo sapiens

RGD ID: 127257844
RS ID: rs782083523
ClinVar ID: CV1086322
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IDS  LOC127898440  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 148,585,738
GRCh38 X 149,504,208
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.-38T>C
NM_000202.8:c.189T>C
NM_006123.5:c.189T>C
NG_011900.3:g.6127T>C
More... 		11/20/2020 5 prime utr 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_001166550
Location:5UTRS;EXON

Gene Symbol:IDS
Accession:NM_000202
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPPRTGRGLLWLGLVLSSVCVALGSETQANSTTDALNVLLIIVDDLRPSLGCYGDKLVRSPNIDQLASHSLLFQNAFAQ
QAVCAPSRVSFLTGRRPDTTRLYDFNSYWRVHAGNFSTIPQYFKENGYVTMSVGKVFHPGISSNHTDDSPYSWSFPPYHP
SSEKYENTKTCRGPDGELHANLLCPVDVLDVPEGTLPDKQSTEQAIQLLEKMKTSASPFFLAVGYHKPHIPFRYPKEFQK
LYPLENITLAPDPEVPDGLPPVAYNPWMDIRQREDVQALNISVPYGPIPVDFQRKIRQSYFASVSYLDTQVGRLLSALDD
LQLANSTIIAFTSDHGWALGEHGEWAKYSNFDVATHVPLIFYVPGRTASLPEAGEKLFPYLDPFDSASQLMEPGRQSMDL
VELVSLFPTLAGLAGLQVPPRCPVPSFHVELCREGKNLLKHFRFRDLEEDPYLPGNPRELIAYSQYPRPSDIPQWNSDKP
SLKDIKIMGYSIRTIDYRYTVWVGFNPDEFLANFSDIHAGELYFVDSDPLQDHNMYNDSQGGDLFQLLMP*

Gene Symbol:IDS
Accession:NM_006123
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPPRTGRGLLWLGLVLSSVCVALGSETQANSTTDALNVLLIIVDDLRPSLGCYGDKLVRSPNIDQLASHSLLFQNAFAQ
QAVCAPSRVSFLTGRRPDTTRLYDFNSYWRVHAGNFSTIPQYFKENGYVTMSVGKVFHPGISSNHTDDSPYSWSFPPYHP
SSEKYENTKTCRGPDGELHANLLCPVDVLDVPEGTLPDKQSTEQAIQLLEKMKTSASPFFLAVGYHKPHIPFRYPKEFQK
LYPLENITLAPDPEVPDGLPPVAYNPWMDIRQREDVQALNISVPYGPIPVDFQRKIRQSYFASVSYLDTQVGRLLSALDD
LQLANSTIIAFTSDHGFLMRTNT*

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001401577 CLINVAR
dbSNP (RS) rs782083523 CLINVAR
MedGen C0026705 CLINVAR
NCBI Gene IDS CLINVAR
OMIM 300823 CLINVAR
  309900 CLINVAR
SNOMED CT 70737009 CLINVAR