LOC106050102 (IDS recombination region) - Rat Genome Database

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Gene: LOC106050102 (IDS recombination region) Homo sapiens
Analyze
Symbol: LOC106050102
Name: IDS recombination region
RGD ID: 38613422
Description: This region is known to undergo non-allelic homologous recombination (NAHR) with a similar low-copy repeat region, the IDSP1 (iduronate 2-sulfatase pseudogene 1) recombination region, which is located about 39 kb downstream of this region, in reverse orientation. NAHR between these regions can result in genomic rearrangements, including inversions and deletions. Rearrangements that disrupt the IDS (iduronate 2-sulfatase) gene can be a cause of Hunter syndrome (also known as mucopolysaccharidosis type II, MPS-II). Genomic structural rearrangements have been observed in about 20% of individuals with Hunter syndrome. This region is composed of multiple sub-regions that have been identified as NAHR exchange sites in different individuals, and also contains an overlapping meiotic recombination hotspot. The NAHR exchange sub-regions are named a1, a2, and b. NAHR involving the a1 and a2 sub-regions have been observed in individuals with inversions, while exchanges in the b sub-region have been observed in deletion rearrangements. Hunter syndrome is an X-linked lysosomal storage disorder caused by deficiencies of the iduronate sulfatase enzyme, leading to the build-up of mucopolysaccharides in bodily tissues. The accumulation of partially degraded dermatan and heparin sulfates can result in skeletal deformities, cognitive deficits, and connective tissue abnormalities. [provided by RefSeq, Sep 2015]
Type: biological-region
RefSeq Status: REVIEWED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X149,486,745 - 149,503,070 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X148,568,276 - 148,584,600 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic MapXq27.3-q28NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References
Additional References at PubMed
PMID:1303177   PMID:7633410   PMID:8103756   PMID:8281149   PMID:8807335   PMID:8940265   PMID:9097969   PMID:9147653   PMID:9482575   PMID:9801874   PMID:10571944   PMID:10737977  
PMID:15832315   PMID:18500569   PMID:21291454   PMID:21593745   PMID:25395542  


Genomics


Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC244197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000202.8(IDS):c.1028G>A (p.Gly343Glu) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291013] ChrX:149487077 [GRCh38]
ChrX:148568608 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.590C>T (p.Pro197Leu) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291000] ChrX:149498225 [GRCh38]
ChrX:148579756 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.786_787delinsC (p.Ala263fs) indel Mucopolysaccharidosis, MPS-II [RCV001291006] ChrX:149496438..149496439 [GRCh38]
ChrX:148577969..148577970 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.801dup (p.Met268fs) duplication Mucopolysaccharidosis, MPS-II [RCV001291007] ChrX:149496423..149496424 [GRCh38]
ChrX:148577954..148577955 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.715_721del (p.Gln239fs) deletion Mucopolysaccharidosis, MPS-II [RCV001291004] ChrX:149496504..149496510 [GRCh38]
ChrX:148578035..148578041 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1006+2T>G single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291032] ChrX:149490312 [GRCh38]
ChrX:148571843 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.622TTG[1] (p.Leu209del) microsatellite Mucopolysaccharidosis, MPS-II [RCV001291002] ChrX:149498188..149498190 [GRCh38]
ChrX:148579719..148579721 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.687del (p.His229fs) deletion Mucopolysaccharidosis, MPS-II [RCV001291003] ChrX:149498128 [GRCh38]
ChrX:148579659 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.829C>T (p.Gln277Ter) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291010] ChrX:149496396 [GRCh38]
ChrX:148577927 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1047C>A (p.Ser349Arg) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291745] ChrX:149487058 [GRCh38]
ChrX:148568589 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1034G>C (p.Trp345Ser) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291014] ChrX:149487071 [GRCh38]
ChrX:148568602 [GRCh37]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000202.8(IDS):c.419-10T>G single nucleotide variant not provided [RCV000926345] ChrX:149501047 [GRCh38]
ChrX:148582578 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.777A>T (p.Leu259=) single nucleotide variant not provided [RCV000928162] ChrX:149496448 [GRCh38]
ChrX:148577979 [GRCh37]
ChrX:Xq28
likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_000202.8(IDS):c.906_907CT[1] (p.Ser303fs) microsatellite Mucopolysaccharidosis, MPS-II [RCV000205483] ChrX:149490411..149490412 [GRCh38]
ChrX:148571942..148571943 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.753C>T (p.Pro251=) single nucleotide variant History of neurodevelopmental disorder [RCV000718617]|Mucopolysaccharidosis, MPS-II [RCV000871914] ChrX:149496472 [GRCh38]
ChrX:148578003 [GRCh37]
ChrX:Xq28
benign|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
NM_000202.8(IDS):c.781C>G (p.Pro261Ala) single nucleotide variant History of neurodevelopmental disorder [RCV000719450]|Mucopolysaccharidosis, MPS-II [RCV000872965] ChrX:149496444 [GRCh38]
ChrX:148577975 [GRCh37]
ChrX:Xq28
benign|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
NM_000202.8(IDS):c.479C>A (p.Pro160His) single nucleotide variant not provided [RCV000598044] ChrX:149500977 [GRCh38]
ChrX:148582508 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:149474154-149506155)x0 copy number loss See cases [RCV000138291] ChrX:149474154..149506155 [GRCh38]
ChrX:148363589..148395590 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000202.8(IDS):c.641C>T (p.Thr214Met) single nucleotide variant History of neurodevelopmental disorder [RCV000715966]|Mucopolysaccharidosis, MPS-II [RCV000205107]|not provided [RCV000587097]|not specified [RCV000078368] ChrX:149498174 [GRCh38]
ChrX:148579705 [GRCh37]
ChrX:Xq28
pathogenic|benign|conflicting interpretations of pathogenicity
NM_000202.8(IDS):c.957C>T (p.Asp319=) single nucleotide variant History of neurodevelopmental disorder [RCV000718011]|Mucopolysaccharidosis, MPS-II [RCV000910706] ChrX:149490363 [GRCh38]
ChrX:148571894 [GRCh37]
ChrX:Xq28
benign|likely benign
GRCh38/hg38 Xq28(chrX:149493233-149500929)x1 copy number loss See cases [RCV000051429] ChrX:149493233..149500929 [GRCh38]
ChrX:148382669..148390365 [NCBI36]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.542A>G (p.Asn181Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000719615] ChrX:149498273 [GRCh38]
ChrX:148579804 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.884A>G (p.Lys295Arg) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000974684] ChrX:149490436 [GRCh38]
ChrX:148571967 [GRCh37]
ChrX:Xq28
benign
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:149489072-149650223)x3 copy number gain See cases [RCV000142043] ChrX:149489072..149650223 [GRCh38]
ChrX:148570603..148731892 [GRCh37]
ChrX:148378508..148539697 [NCBI36]
ChrX:Xq28
likely benign|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000202.8(IDS):c.670G>A (p.Gly224Arg) single nucleotide variant not specified [RCV001193752] ChrX:149498145 [GRCh38]
ChrX:148579676 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
NM_000202.8(IDS):c.1144G>C (p.Asp382His) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000688992] ChrX:149486961 [GRCh38]
ChrX:148568492 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.1122C>T (p.Gly374=) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000011237] ChrX:149486983 [GRCh38]
ChrX:148568514 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
NM_000202.8(IDS):c.826G>C (p.Val276Leu) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001213072] ChrX:149496399 [GRCh38]
ChrX:148577930 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:149489477-149681127)x2 copy number gain See cases [RCV000136920] ChrX:149489477..149681127 [GRCh38]
ChrX:148378913..148603594 [NCBI36]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.438C>T (p.Thr146=) single nucleotide variant History of neurodevelopmental disorder [RCV000715264]|Mucopolysaccharidosis, MPS-II [RCV000206047]|not provided [RCV000589894]|not specified [RCV000078365] ChrX:149501018 [GRCh38]
ChrX:148582549 [GRCh37]
ChrX:Xq28
benign
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
NM_000202.8(IDS):c.684A>G (p.Pro228=) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000899428] ChrX:149498131 [GRCh38]
ChrX:148579662 [GRCh37]
ChrX:Xq28
benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000202.8(IDS):c.702C>A (p.Tyr234Ter) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000691787] ChrX:149498113 [GRCh38]
ChrX:148579644 [GRCh37]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
NM_000202.8(IDS):c.1040A>G (p.Lys347Arg) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001041100] ChrX:149487065 [GRCh38]
ChrX:148568596 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
pathogenic
NM_000202.8(IDS):c.1027G>A (p.Gly343Arg) single nucleotide variant not provided [RCV000498587] ChrX:149487078 [GRCh38]
ChrX:148568609 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.999G>A (p.Ser333=) single nucleotide variant History of neurodevelopmental disorder [RCV000718593] ChrX:149490321 [GRCh38]
ChrX:148571852 [GRCh37]
ChrX:Xq28
likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28
pathogenic
NM_000202.8(IDS):c.587T>C (p.Leu196Ser) single nucleotide variant not provided [RCV000178730] ChrX:149498228 [GRCh38]
ChrX:148579759 [GRCh37]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000202.8(IDS):c.442G>T (p.Asp148Tyr) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000990963] ChrX:149501014 [GRCh38]
ChrX:148582545 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.610C>T (p.Gln204Ter) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001089580] ChrX:149498205 [GRCh38]
ChrX:148579736 [GRCh37]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
NM_000202.8(IDS):c.467C>A (p.Pro156Gln) single nucleotide variant History of neurodevelopmental disorder [RCV000718787]|Mucopolysaccharidosis, MPS-II [RCV001081804]|not provided [RCV000675880] ChrX:149500989 [GRCh38]
ChrX:148582520 [GRCh37]
ChrX:Xq28
benign
NM_000202.8(IDS):c.465T>A (p.Phe155Leu) single nucleotide variant History of neurodevelopmental disorder [RCV000718790]|Mucopolysaccharidosis, MPS-II [RCV001081803]|not provided [RCV000675881] ChrX:149500991 [GRCh38]
ChrX:148582522 [GRCh37]
ChrX:Xq28
benign
GRCh38/hg38 Xq28(chrX:149352525-149532248)x3 copy number gain See cases [RCV000054284] ChrX:149352525..149532248 [GRCh38]
ChrX:148241776..148421672 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:149176559-149745979)x3 copy number gain See cases [RCV000143669] ChrX:149176559..149745979 [GRCh38]
ChrX:148258089..148827640 [GRCh37]
ChrX:148065733..148635452 [NCBI36]
ChrX:Xq28
likely benign|uncertain significance
NM_000202.8(IDS):c.849G>C (p.Val283=) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000908887] ChrX:149496376 [GRCh38]
ChrX:148577907 [GRCh37]
ChrX:Xq28
benign
NM_000202.8(IDS):c.1106C>A (p.Ser369Ter) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000689901] ChrX:149486999 [GRCh38]
ChrX:148568530 [GRCh37]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
NM_000202.8(IDS):c.596_599del (p.Lys199fs) deletion Mucopolysaccharidosis, MPS-II [RCV001243493] ChrX:149498216..149498219 [GRCh38]
ChrX:148579747..148579750 [GRCh37]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:146896288-149621145)x1 copy number loss See cases [RCV000050631] ChrX:146896288..149621145 [GRCh38]
ChrX:145785498..148510629 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
NM_000202.8(IDS):c.878A>G (p.Gln293Arg) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001238380] ChrX:149496347 [GRCh38]
ChrX:148577878 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:149467866-149746113)x2 copy number gain See cases [RCV000142042] ChrX:149467866..149746113 [GRCh38]
ChrX:148549397..148827774 [GRCh37]
ChrX:148357302..148635586 [NCBI36]
ChrX:Xq28
likely benign|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
NM_000202.8(IDS):c.690_691insT (p.Pro231fs) insertion not provided [RCV000178732] ChrX:149498124..149498125 [GRCh38]
ChrX:148579655..148579656 [GRCh37]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
NM_000202.8(IDS):c.1024C>T (p.His342Tyr) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001216955] ChrX:149487081 [GRCh38]
ChrX:148568612 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000202.8(IDS):c.653_654del (p.Pro218fs) deletion Mucopolysaccharidosis, MPS-II [RCV001220532] ChrX:149498161..149498162 [GRCh38]
ChrX:148579692..148579693 [GRCh37]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:149209021-149681127)x3 copy number gain See cases [RCV000133756] ChrX:149209021..149681127 [GRCh38]
ChrX:148098221..148603548 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq28(chrX:149045934-149690142)x2 copy number gain See cases [RCV000143564] ChrX:149045934..149690142 [GRCh38]
ChrX:148127464..148771802 [GRCh37]
ChrX:147935169..148570601 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000202.8(IDS):c.851C>T (p.Pro284Leu) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000899427] ChrX:149496374 [GRCh38]
ChrX:148577905 [GRCh37]
ChrX:Xq28
benign
NM_000202.8(IDS):c.925A>G (p.Thr309Ala) single nucleotide variant History of neurodevelopmental disorder [RCV000715643]|Mucopolysaccharidosis, MPS-II [RCV000990962]|not provided [RCV000675877]|not specified [RCV000179733] ChrX:149490395 [GRCh38]
ChrX:148571926 [GRCh37]
ChrX:Xq28
benign|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000202.8(IDS):c.1123G>A (p.Glu375Lys) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001244314] ChrX:149486982 [GRCh38]
ChrX:148568513 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.727C>T (p.Pro243Ser) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000542235] ChrX:149496498 [GRCh38]
ChrX:148578029 [GRCh37]
ChrX:Xq28
benign
NM_000202.8(IDS):c.1046G>A (p.Ser349Asn) single nucleotide variant not provided [RCV000478817] ChrX:149487059 [GRCh38]
ChrX:148568590 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh38/hg38 Xq28(chrX:149176559-149746198)x2 copy number gain See cases [RCV000141986] ChrX:149176559..149746198 [GRCh38]
ChrX:148258089..148827859 [GRCh37]
ChrX:148065733..148635671 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000202.8(IDS):c.1159G>A (p.Ala387Thr) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000945872] ChrX:149486946 [GRCh38]
ChrX:148568477 [GRCh37]
ChrX:Xq28
benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq28(chrX:149429424-149617725)x0 copy number loss See cases [RCV000051749] ChrX:149429424..149617725 [GRCh38]
ChrX:148318877..148507209 [NCBI36]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.937C>T (p.Arg313Cys) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000950974] ChrX:149490383 [GRCh38]
ChrX:148571914 [GRCh37]
ChrX:Xq28
benign
NM_000202.8(IDS):c.1016T>C (p.Leu339Pro) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000206113] ChrX:149487089 [GRCh38]
ChrX:148568620 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.508-1G>C single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000207376] ChrX:149498308 [GRCh38]
ChrX:148579839 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.958G>A (p.Asp320Asn) single nucleotide variant Inborn genetic diseases [RCV001265810] ChrX:149490362 [GRCh38]
ChrX:148571893 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
NM_000202.8(IDS):c.449C>T (p.Pro150Leu) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001057671] ChrX:149501007 [GRCh38]
ChrX:148582538 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:149186314-149681127)x2 copy number gain See cases [RCV000141245] ChrX:149186314..149681127 [GRCh38]
ChrX:148075488..148603594 [NCBI36]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.708+1G>T single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001059349] ChrX:149498106 [GRCh38]
ChrX:148579637 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1112C>T (p.Pro371Leu) single nucleotide variant not provided [RCV000950891] ChrX:149486993 [GRCh38]
ChrX:148568524 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.425C>A (p.Ser142Tyr) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000204759] ChrX:149501031 [GRCh38]
ChrX:148582562 [GRCh37]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
NM_000202.8(IDS):c.479C>G (p.Pro160Arg) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000011235] ChrX:149500977 [GRCh38]
ChrX:148582508 [GRCh37]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000202.8(IDS):c.754G>A (p.Asp252Asn) single nucleotide variant History of neurodevelopmental disorder [RCV000718814]|Mucopolysaccharidosis, MPS-II [RCV001081450]|not provided [RCV000487550] ChrX:149496471 [GRCh38]
ChrX:148578002 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000202.8(IDS):c.1132_1133del (p.Phe378fs) deletion Mucopolysaccharidosis, MPS-II [RCV000207401] ChrX:149486972..149486973 [GRCh38]
ChrX:148568503..148568504 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.589_592del (p.Pro197fs) deletion Mucopolysaccharidosis, MPS-II [RCV000790546] ChrX:149498223..149498226 [GRCh38]
ChrX:148579754..148579757 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.11:g.(?_149478764)_(149505354_?)del deletion Mucopolysaccharidosis, MPS-II [RCV000011238] ChrX:149478764..149505354 [GRCh38]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.708+1G>A single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000204551] ChrX:149498106 [GRCh38]
ChrX:148579637 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.934G>A (p.Gly312Ser) single nucleotide variant not provided [RCV000481557]|not specified [RCV001293485] ChrX:149490386 [GRCh38]
ChrX:148571917 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.1099A>T (p.Thr367Ser) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000501829] ChrX:149487006 [GRCh38]
ChrX:148568537 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.688A>T (p.Ile230Phe) single nucleotide variant not provided [RCV000520378] ChrX:149498127 [GRCh38]
ChrX:148579658 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.1113G>T (p.Pro371=) single nucleotide variant not provided [RCV000945023] ChrX:149486992 [GRCh38]
ChrX:148568523 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.1143C>T (p.Leu381=) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000878341] ChrX:149486962 [GRCh38]
ChrX:148568493 [GRCh37]
ChrX:Xq28
benign
NM_000202.8(IDS):c.998C>T (p.Ser333Leu) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000011233]|not provided [RCV000790725] ChrX:149490322 [GRCh38]
ChrX:148571853 [GRCh37]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
NM_000202.8(IDS):c.984del (p.Ile329fs) deletion Mucopolysaccharidosis, MPS-II [RCV000810354] ChrX:149490336 [GRCh38]
ChrX:148571867 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.419-1G>A single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000632182] ChrX:149501038 [GRCh38]
ChrX:148582569 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.507+6G>T single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000935202] ChrX:149500943 [GRCh38]
ChrX:148582474 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.832_833insATGTTTAAGGGAAG (p.Ala278delinsAspValTer) insertion not provided [RCV000179274] ChrX:149496392..149496393 [GRCh38]
ChrX:148577923..148577924 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.463_464delinsCCGTATAGCTGG (p.Phe155fs) indel Mucopolysaccharidosis, MPS-II [RCV000207427] ChrX:149500992..149500993 [GRCh38]
ChrX:148582523..148582524 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1007-8T>G single nucleotide variant not provided [RCV000180107] ChrX:149487106 [GRCh38]
ChrX:148568637 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.884A>T (p.Lys295Ile) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000203709] ChrX:149490436 [GRCh38]
ChrX:148571967 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.592G>A (p.Asp198Asn) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000204006] ChrX:149498223 [GRCh38]
ChrX:148579754 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_000202.8(IDS):c.613G>C (p.Ala205Pro) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000204533] ChrX:149498202 [GRCh38]
ChrX:148579733 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.683C>A (p.Pro228Gln) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000205838] ChrX:149498132 [GRCh38]
ChrX:148579663 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.469C>T (p.Pro157Ser) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000205861] ChrX:149500987 [GRCh38]
ChrX:148582518 [GRCh37]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
NM_000202.8(IDS):c.933C>T (p.Val311=) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001278797] ChrX:149490387 [GRCh38]
ChrX:148571918 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.613del (p.Ala205fs) deletion Mucopolysaccharidosis, MPS-II [RCV001291001] ChrX:149498202 [GRCh38]
ChrX:148579733 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.708G>A (p.Lys236=) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000790547] ChrX:149498107 [GRCh38]
ChrX:148579638 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.1033T>A (p.Trp345Arg) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000204392] ChrX:149487072 [GRCh38]
ChrX:148568603 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1025A>C (p.His342Pro) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000207405] ChrX:149487080 [GRCh38]
ChrX:148568611 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.1074C>G (p.Pro358=) single nucleotide variant History of neurodevelopmental disorder [RCV000720990]|Mucopolysaccharidosis, MPS-II [RCV000871468]|not provided [RCV001171648] ChrX:149487031 [GRCh38]
ChrX:148568562 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_000202.8(IDS):c.692C>G (p.Pro231Arg) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291748] ChrX:149498123 [GRCh38]
ChrX:148579654 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.1044C>G (p.Tyr348Ter) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000781473] ChrX:149487061 [GRCh38]
ChrX:148568592 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.613G>A (p.Ala205Thr) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001007857] ChrX:149498202 [GRCh38]
ChrX:148579733 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.696C>T (p.Phe232=) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000955138] ChrX:149498119 [GRCh38]
ChrX:148579650 [GRCh37]
ChrX:Xq28
benign
NM_000202.8(IDS):c.1013C>A (p.Ala338Asp) single nucleotide variant not provided [RCV000727560] ChrX:149487092 [GRCh38]
ChrX:148568623 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
pathogenic
NM_000202.8(IDS):c.1003C>T (p.His335Tyr) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000207368] ChrX:149490317 [GRCh38]
ChrX:148571848 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.709-680C>T single nucleotide variant not provided [RCV000675879] ChrX:149497196 [GRCh38]
ChrX:148578727 [GRCh37]
ChrX:Xq28
benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139230333-150628474)x1 copy number loss See cases [RCV000051733] ChrX:139230333..150628474 [GRCh38]
ChrX:138312495..149782550 [GRCh37]
ChrX:138140161..149547605 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
NM_000202.8(IDS):c.473_475ATC[1] (p.His159del) microsatellite Mucopolysaccharidosis, MPS-II [RCV000499707] ChrX:149500978..149500980 [GRCh38]
ChrX:148582509..148582511 [GRCh37]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000202.8(IDS):c.754_767del (p.Pro251_Asp252insTer) deletion Mucopolysaccharidosis, MPS-II [RCV000207366] ChrX:149496458..149496471 [GRCh38]
ChrX:148577989..148578002 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.667G>A (p.Val223Ile) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000914690]|not specified [RCV000424614] ChrX:149498148 [GRCh38]
ChrX:148579679 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_000202.8(IDS):c.806A>T (p.Asp269Val) single nucleotide variant not provided [RCV000489884] ChrX:149496419 [GRCh38]
ChrX:148577950 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.1001A>G (p.Asp334Gly) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001057510] ChrX:149490319 [GRCh38]
ChrX:148571850 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance
NM_000202.8(IDS):c.514C>T (p.Arg172Ter) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000011236] ChrX:149498301 [GRCh38]
ChrX:148579832 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1006+8T>C single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000951585] ChrX:149490306 [GRCh38]
ChrX:148571837 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.1006G>T (p.Gly336Trp) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000548295] ChrX:149490314 [GRCh38]
ChrX:148571845 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
NM_000202.8(IDS):c.1142T>G (p.Leu381Arg) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001003052] ChrX:149486963 [GRCh38]
ChrX:148568494 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.820G>T (p.Glu274Ter) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000204905] ChrX:149496405 [GRCh38]
ChrX:148577936 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.935G>A (p.Gly312Asp) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000205196] ChrX:149490385 [GRCh38]
ChrX:148571916 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.709-671dup duplication not provided [RCV000675878] ChrX:149497176..149497177 [GRCh38]
ChrX:148578707..148578708 [GRCh37]
ChrX:Xq28
likely benign
NM_000202.8(IDS):c.760G>A (p.Glu254Lys) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000941232] ChrX:149496465 [GRCh38]
ChrX:148577996 [GRCh37]
ChrX:Xq28
likely benign
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
NM_000202.8(IDS):c.838_842del (p.Asn280fs) deletion Mucopolysaccharidosis, MPS-II [RCV001066509] ChrX:149496383..149496387 [GRCh38]
ChrX:148577914..148577918 [GRCh37]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:147151996-150364798)x1 copy number loss See cases [RCV000051748] ChrX:147151996..150364798 [GRCh38]
ChrX:146041206..149283723 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:149383585-149599140)x2 copy number gain See cases [RCV000140479] ChrX:149383585..149599140 [GRCh38]
ChrX:148465115..148680802 [GRCh37]
ChrX:148272846..148488601 [NCBI36]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.1148del (p.Pro383fs) deletion not provided [RCV000180106] ChrX:149486957 [GRCh38]
ChrX:148568488 [GRCh37]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28
pathogenic
NM_000202.8(IDS):c.419-16dup duplication not provided [RCV000178062] ChrX:149501042..149501043 [GRCh38]
ChrX:148582573..148582574 [GRCh37]
ChrX:Xq28
uncertain significance
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
NM_000202.8(IDS):c.445T>G (p.Ser149Ala) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001083047]|not provided [RCV000762676] ChrX:149501011 [GRCh38]
ChrX:148582542 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
NM_000202.8(IDS):c.509_510del (p.Thr170fs) deletion Mucopolysaccharidosis, MPS-II [RCV000011242] ChrX:149498305..149498306 [GRCh38]
ChrX:148579836..148579837 [GRCh37]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000202.8(IDS):c.666C>T (p.Ala222=) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000864901] ChrX:149498149 [GRCh38]
ChrX:148579680 [GRCh37]
ChrX:Xq28
benign
NM_000202.8(IDS):c.811A>T (p.Arg271Trp) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000790548] ChrX:149496414 [GRCh38]
ChrX:148577945 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000202.8(IDS):c.508-1G>A single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000206667] ChrX:149498308 [GRCh38]
ChrX:148579839 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1006+1G>T single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000207409] ChrX:149490313 [GRCh38]
ChrX:148571844 [GRCh37]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000202.8(IDS):c.597del (p.Lys199fs) deletion not provided [RCV000178731] ChrX:149498218 [GRCh38]
ChrX:148579749 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.881G>A (p.Arg294Gln) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000946036] ChrX:149490439 [GRCh38]
ChrX:148571970 [GRCh37]
ChrX:Xq28
benign
NM_000202.8(IDS):c.825C>T (p.Asp275=) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000865485] ChrX:149496400 [GRCh38]
ChrX:148577931 [GRCh37]
ChrX:Xq28
benign
NM_000202.8(IDS):c.419-6del deletion not provided [RCV000675882] ChrX:149501043 [GRCh38]
ChrX:148582574 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.450G>A (p.Pro150=) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV000879403] ChrX:149501006 [GRCh38]
ChrX:148582537 [GRCh37]
ChrX:Xq28
benign
NM_000202.8(IDS):c.814C>T (p.Gln272Ter) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291009] ChrX:149496411 [GRCh38]
ChrX:148577942 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.998C>A (p.Ser333Ter) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291012] ChrX:149490322 [GRCh38]
ChrX:148571853 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1129del (p.Leu377fs) deletion Mucopolysaccharidosis, MPS-II [RCV001291015] ChrX:149486976 [GRCh38]
ChrX:148568507 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.525T>A (p.Asp175Glu) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001329095] ChrX:149498290 [GRCh38]
ChrX:148579821 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.898T>G (p.Tyr300Asp) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001297916] ChrX:149490422 [GRCh38]
ChrX:148571953 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.781C>T (p.Pro261Ser) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001345881] ChrX:149496444 [GRCh38]
ChrX:148577975 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000202.8(IDS):c.419-133dup duplication not provided [RCV000843782] ChrX:149501168..149501169 [GRCh38]
ChrX:148582699..148582700 [GRCh37]
ChrX:Xq28
benign
NM_000202.8(IDS):c.683C>T (p.Pro228Leu) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291035] ChrX:149498132 [GRCh38]
ChrX:148579663 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.419-2A>G single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291938] ChrX:149501039 [GRCh38]
ChrX:148582570 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1006+1G>A single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291939] ChrX:149490313 [GRCh38]
ChrX:148571844 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.899_900del (p.Tyr300fs) deletion Mucopolysaccharidosis, MPS-II [RCV001291011] ChrX:149490420..149490421 [GRCh38]
ChrX:148571951..148571952 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.1150_1151insAAAGGGTCGCA (p.Phe384Ter) insertion Mucopolysaccharidosis, MPS-II [RCV001291016] ChrX:149486954..149486955 [GRCh38]
ChrX:148568485..148568486 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.709-1G>A single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001291940] ChrX:149496517 [GRCh38]
ChrX:148578048 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.512G>A (p.Cys171Tyr) single nucleotide variant Mucopolysaccharidosis, MPS-II [RCV001290999] ChrX:149498303 [GRCh38]
ChrX:148579834 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.776_777dup (p.Pro260fs) duplication Mucopolysaccharidosis, MPS-II [RCV001291005] ChrX:149496447..149496448 [GRCh38]
ChrX:148577978..148577979 [GRCh37]
ChrX:Xq28
pathogenic
NM_000202.8(IDS):c.800_801del (p.Trp267fs) deletion Mucopolysaccharidosis, MPS-II [RCV001291008] ChrX:149496424..149496425 [GRCh38]
ChrX:148577955..148577956 [GRCh37]
ChrX:Xq28
pathogenic

Additional Information

Database Acc Id Source(s)
COSMIC LOC106050102 COSMIC
GTEx LOC106050102 GTEx
Human Proteome Map LOC106050102 Human Proteome Map
NCBI Gene LOC106050102 ENTREZGENE