WDR45 (WD repeat domain 45) - Rat Genome Database

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Gene: WDR45 (WD repeat domain 45) Homo sapiens
Analyze
Symbol: WDR45
Name: WD repeat domain 45
RGD ID: 1348509
HGNC Page HGNC
Description: Exhibits phosphatidylinositol phosphate binding activity and protein kinase binding activity. Involved in autophagosome assembly and cellular response to starvation. Localizes to phagophore assembly site. Implicated in neurodegeneration with brain iron accumulation 5.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: JM5; NBIA4; NBIA5; neurodegeneration with brain iron accumulation 4; neurodegeneration with brain iron accumulation 5; WD repeat domain phosphoinositide-interacting protein 4; WD repeat domain, X-linked 1; WD repeat-containing protein 45; WD45 repeat protein interacting with phosphoinositides 4; WDRX1; WIPI-4; WIPI4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: WDR45P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX49,074,433 - 49,101,170 (-)EnsemblGRCh38hg38GRCh38
GRCh38X49,074,442 - 49,101,178 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X48,932,101 - 48,958,116 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,819,036 - 48,845,003 (-)NCBINCBI36hg18NCBI36
Build 34X48,688,548 - 48,714,308NCBI
CeleraX52,706,432 - 52,732,399 (+)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,588,725 - 46,614,834 (-)NCBIHuRef
CHM1_1X48,963,413 - 48,989,776 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

References

Additional References at PubMed
PMID:8125298   PMID:14671302   PMID:14702039   PMID:15020712   PMID:15489334   PMID:15602573   PMID:18984161   PMID:20301334   PMID:20562859   PMID:21832049   PMID:21873635   PMID:23176820  
PMID:23435086   PMID:23447832   PMID:23687123   PMID:24368176   PMID:25044655   PMID:25263061   PMID:25592411   PMID:25959826   PMID:26186194   PMID:26481852   PMID:26496610   PMID:26577041  
PMID:26638075   PMID:26673895   PMID:27030146   PMID:27349079   PMID:27349085   PMID:27432908   PMID:28211668   PMID:28514442   PMID:28551038   PMID:28561066   PMID:28711740   PMID:28986522  
PMID:29171013   PMID:29325618   PMID:29568061   PMID:29593330   PMID:29981852   PMID:30169597   PMID:30185561   PMID:31006538   PMID:31091453   PMID:31332960   PMID:31519766   PMID:33636118  


Genomics

Comparative Map Data
WDR45
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX49,074,433 - 49,101,170 (-)EnsemblGRCh38hg38GRCh38
GRCh38X49,074,442 - 49,101,178 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X48,932,101 - 48,958,116 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,819,036 - 48,845,003 (-)NCBINCBI36hg18NCBI36
Build 34X48,688,548 - 48,714,308NCBI
CeleraX52,706,432 - 52,732,399 (+)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,588,725 - 46,614,834 (-)NCBIHuRef
CHM1_1X48,963,413 - 48,989,776 (-)NCBICHM1_1
Wdr45
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X7,588,193 - 7,594,440 (+)NCBIGRCm39mm39
GRCm39 EnsemblX7,580,572 - 7,594,445 (+)Ensembl
GRCm38X7,721,987 - 7,728,201 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX7,714,333 - 7,728,206 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X7,299,375 - 7,305,327 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X6,879,208 - 6,885,160 (+)NCBImm8
CeleraX3,742,357 - 3,748,359 (-)NCBICelera
Cytogenetic MapXA1.1NCBI
cM MapX3.48NCBI
Wdr45
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X14,776,280 - 14,782,197 (-)NCBI
Rnor_6.0 EnsemblX15,621,209 - 15,627,235 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X15,621,249 - 15,627,159 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X16,402,686 - 16,408,439 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X26,816,610 - 26,822,245 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X26,870,079 - 26,875,714 (-)NCBI
CeleraX14,860,493 - 14,866,128 (-)NCBICelera
Cytogenetic MapXq12NCBI
Wdr45
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955543597,814 - 603,963 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955543597,796 - 604,163 (-)NCBIChiLan1.0ChiLan1.0
WDR45
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X49,228,153 - 49,233,960 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX49,224,864 - 49,233,960 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X41,372,722 - 41,400,441 (-)NCBIMhudiblu_PPA_v0panPan3
WDR45
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X42,221,261 - 42,237,535 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX42,218,046 - 42,226,422 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX16,596,869 - 16,613,180 (-)NCBI
ROS_Cfam_1.0X42,357,475 - 42,373,725 (-)NCBI
UMICH_Zoey_3.1X42,343,804 - 42,360,115 (-)NCBI
UNSW_CanFamBas_1.0X42,331,450 - 42,347,770 (-)NCBI
UU_Cfam_GSD_1.0X42,426,205 - 42,442,519 (-)NCBI
Wdr45
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X34,734,724 - 34,740,594 (-)NCBI
SpeTri2.0NW_004936721975,113 - 981,149 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
WDR45
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX43,147,476 - 43,156,195 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X43,150,691 - 43,155,981 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X47,998,631 - 48,003,934 (-)NCBISscrofa10.2Sscrofa10.2susScr3
WDR45
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X46,183,278 - 46,188,564 (-)NCBI
ChlSab1.1 EnsemblX46,183,443 - 46,188,536 (-)Ensembl
Vero_WHO_p1.0NW_02366607611,748,609 - 11,754,464 (-)NCBI
Wdr45
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624893845,689 - 852,221 (-)NCBI

Position Markers
DXS8228  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,959,689 - 48,959,795UniSTSGRCh37
Build 36X48,846,633 - 48,846,739RGDNCBI36
CeleraX52,704,696 - 52,704,802RGD
Cytogenetic MapXp11.23UniSTS
HuRefX46,616,464 - 46,616,570UniSTS
MARC_10039-10040:997207294:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,934,363 - 48,935,380UniSTSGRCh37
Build 36X48,821,307 - 48,822,324RGDNCBI36
CeleraX52,729,111 - 52,730,128RGD
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7363
Count of miRNA genes:1089
Interacting mature miRNAs:1396
Transcripts:ENST00000322995, ENST00000356463, ENST00000367375, ENST00000376357, ENST00000376368, ENST00000376372, ENST00000396681, ENST00000419567, ENST00000423215, ENST00000433252, ENST00000460501, ENST00000465382, ENST00000465431, ENST00000465806, ENST00000471338, ENST00000472654, ENST00000473974, ENST00000474053, ENST00000475880, ENST00000475977, ENST00000476728, ENST00000480412, ENST00000485908, ENST00000486337, ENST00000496803, ENST00000553851
Prediction methods:Microtar, Miranda, Pita, Pita,Microtar, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2421 2906 1699 601 1741 442 4202 2116 3414 401 1322 1590 175 1 1204 2787 5 2
Low 18 85 27 23 210 23 155 81 320 18 138 23 1 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001029896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC231657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF196779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ005897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY408066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY691428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ068083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000322995   ⟹   ENSP00000365543
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,074,640 - 49,079,898 (-)Ensembl
RefSeq Acc Id: ENST00000356463   ⟹   ENSP00000348848
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,074,640 - 49,101,121 (-)Ensembl
RefSeq Acc Id: ENST00000367375   ⟹   ENSP00000356345
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,074,669 - 49,077,746 (-)Ensembl
RefSeq Acc Id: ENST00000376357
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,077,487 - 49,080,097 (-)Ensembl
RefSeq Acc Id: ENST00000376368   ⟹   ENSP00000365546
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,074,704 - 49,079,929 (-)Ensembl
RefSeq Acc Id: ENST00000376372   ⟹   ENSP00000365551
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,074,442 - 49,079,887 (-)Ensembl
RefSeq Acc Id: ENST00000396681   ⟹   ENSP00000379913
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,074,792 - 49,079,902 (-)Ensembl
RefSeq Acc Id: ENST00000419567   ⟹   ENSP00000393640
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,075,668 - 49,078,112 (-)Ensembl
RefSeq Acc Id: ENST00000423215   ⟹   ENSP00000397657
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,075,740 - 49,080,153 (-)Ensembl
RefSeq Acc Id: ENST00000433252
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,074,669 - 49,075,955 (-)Ensembl
RefSeq Acc Id: ENST00000460501
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,080,031 - 49,101,144 (-)Ensembl
RefSeq Acc Id: ENST00000465382   ⟹   ENSP00000420534
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,075,939 - 49,080,256 (-)Ensembl
RefSeq Acc Id: ENST00000465431
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,076,769 - 49,079,856 (-)Ensembl
RefSeq Acc Id: ENST00000465806
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,074,433 - 49,080,097 (-)Ensembl
RefSeq Acc Id: ENST00000471338   ⟹   ENSP00000418466
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,075,745 - 49,079,903 (-)Ensembl
RefSeq Acc Id: ENST00000472654
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,075,655 - 49,076,890 (-)Ensembl
RefSeq Acc Id: ENST00000473974   ⟹   ENSP00000417211
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,074,700 - 49,079,872 (-)Ensembl
RefSeq Acc Id: ENST00000474053   ⟹   ENSP00000420728
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,075,704 - 49,079,859 (-)Ensembl
RefSeq Acc Id: ENST00000475880   ⟹   ENSP00000418919
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,075,364 - 49,079,880 (-)Ensembl
RefSeq Acc Id: ENST00000475977   ⟹   ENSP00000417754
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,074,442 - 49,075,877 (-)Ensembl
RefSeq Acc Id: ENST00000476728   ⟹   ENSP00000419324
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,075,895 - 49,079,887 (-)Ensembl
RefSeq Acc Id: ENST00000480412
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,075,359 - 49,075,874 (-)Ensembl
RefSeq Acc Id: ENST00000485908   ⟹   ENSP00000419897
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,074,658 - 49,079,911 (-)Ensembl
RefSeq Acc Id: ENST00000486337   ⟹   ENSP00000419453
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,074,640 - 49,075,378 (-)Ensembl
RefSeq Acc Id: ENST00000496803
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,077,074 - 49,079,915 (-)Ensembl
RefSeq Acc Id: ENST00000634390
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,077,558 - 49,079,901 (-)Ensembl
RefSeq Acc Id: ENST00000634465
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,076,400 - 49,077,263 (-)Ensembl
RefSeq Acc Id: ENST00000634522   ⟹   ENSP00000489330
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,075,703 - 49,079,856 (-)Ensembl
RefSeq Acc Id: ENST00000634559   ⟹   ENSP00000488986
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,074,640 - 49,079,892 (-)Ensembl
RefSeq Acc Id: ENST00000634671   ⟹   ENSP00000489040
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,077,653 - 49,101,170 (-)Ensembl
RefSeq Acc Id: ENST00000634711
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,076,990 - 49,079,915 (-)Ensembl
RefSeq Acc Id: ENST00000634736   ⟹   ENSP00000489561
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,075,213 - 49,079,900 (-)Ensembl
RefSeq Acc Id: ENST00000634838   ⟹   ENSP00000489268
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,074,447 - 49,079,881 (-)Ensembl
RefSeq Acc Id: ENST00000634849   ⟹   ENSP00000489150
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,076,447 - 49,101,060 (-)Ensembl
RefSeq Acc Id: ENST00000634852
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,074,820 - 49,077,579 (-)Ensembl
RefSeq Acc Id: ENST00000634908
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,079,960 - 49,101,144 (-)Ensembl
RefSeq Acc Id: ENST00000634939
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,080,085 - 49,101,144 (-)Ensembl
RefSeq Acc Id: ENST00000634944   ⟹   ENSP00000488972
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,074,442 - 49,080,073 (-)Ensembl
RefSeq Acc Id: ENST00000635003   ⟹   ENSP00000489080
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,074,443 - 49,079,867 (-)Ensembl
RefSeq Acc Id: ENST00000635329
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,076,508 - 49,077,618 (-)Ensembl
RefSeq Acc Id: ENST00000635344   ⟹   ENSP00000489553
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,075,373 - 49,079,902 (-)Ensembl
RefSeq Acc Id: ENST00000635666   ⟹   ENSP00000489128
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,075,219 - 49,079,889 (-)Ensembl
RefSeq Acc Id: ENST00000636049   ⟹   ENSP00000490378
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,078,046 - 49,079,702 (-)Ensembl
RefSeq Acc Id: ENST00000636645   ⟹   ENSP00000490130
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,078,073 - 49,079,095 (-)Ensembl
RefSeq Acc Id: NM_001029896   ⟹   NP_001025067
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,074,442 - 49,079,887 (-)NCBI
GRCh37X48,932,092 - 48,958,059 (-)RGD
Build 36X48,819,036 - 48,824,508 (-)NCBI Archive
CeleraX52,706,432 - 52,732,399 (+)RGD
HuRefX46,588,725 - 46,614,834 (-)RGD
CHM1_1X48,963,413 - 48,968,885 (-)NCBI
Sequence:
RefSeq Acc Id: NM_007075   ⟹   NP_009006
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,074,442 - 49,101,178 (-)NCBI
GRCh37X48,932,092 - 48,958,059 (-)RGD
Build 36X48,819,036 - 48,845,003 (-)NCBI Archive
CeleraX52,706,432 - 52,732,399 (+)RGD
HuRefX46,588,725 - 46,614,834 (-)RGD
CHM1_1X48,963,413 - 48,989,776 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_009006   ⟸   NM_007075
- Peptide Label: isoform 1
- UniProtKB: Q9Y484 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001025067   ⟸   NM_001029896
- Peptide Label: isoform 2
- UniProtKB: Q9Y484 (UniProtKB/Swiss-Prot),   A0A024QYX1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000397657   ⟸   ENST00000423215
RefSeq Acc Id: ENSP00000488972   ⟸   ENST00000634944
RefSeq Acc Id: ENSP00000489150   ⟸   ENST00000634849
RefSeq Acc Id: ENSP00000489268   ⟸   ENST00000634838
RefSeq Acc Id: ENSP00000489561   ⟸   ENST00000634736
RefSeq Acc Id: ENSP00000489040   ⟸   ENST00000634671
RefSeq Acc Id: ENSP00000488986   ⟸   ENST00000634559
RefSeq Acc Id: ENSP00000489330   ⟸   ENST00000634522
RefSeq Acc Id: ENSP00000489553   ⟸   ENST00000635344
RefSeq Acc Id: ENSP00000489080   ⟸   ENST00000635003
RefSeq Acc Id: ENSP00000489128   ⟸   ENST00000635666
RefSeq Acc Id: ENSP00000490378   ⟸   ENST00000636049
RefSeq Acc Id: ENSP00000490130   ⟸   ENST00000636645
RefSeq Acc Id: ENSP00000420534   ⟸   ENST00000465382
RefSeq Acc Id: ENSP00000365543   ⟸   ENST00000322995
RefSeq Acc Id: ENSP00000365546   ⟸   ENST00000376368
RefSeq Acc Id: ENSP00000365551   ⟸   ENST00000376372
RefSeq Acc Id: ENSP00000393640   ⟸   ENST00000419567
RefSeq Acc Id: ENSP00000356345   ⟸   ENST00000367375
RefSeq Acc Id: ENSP00000418466   ⟸   ENST00000471338
RefSeq Acc Id: ENSP00000419897   ⟸   ENST00000485908
RefSeq Acc Id: ENSP00000419453   ⟸   ENST00000486337
RefSeq Acc Id: ENSP00000417211   ⟸   ENST00000473974
RefSeq Acc Id: ENSP00000420728   ⟸   ENST00000474053
RefSeq Acc Id: ENSP00000348848   ⟸   ENST00000356463
RefSeq Acc Id: ENSP00000418919   ⟸   ENST00000475880
RefSeq Acc Id: ENSP00000379913   ⟸   ENST00000396681
RefSeq Acc Id: ENSP00000417754   ⟸   ENST00000475977
RefSeq Acc Id: ENSP00000419324   ⟸   ENST00000476728
Protein Domains
CNH

Promoters
RGD ID:6809403
Promoter ID:HG_KWN:66740
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000083423,   OTTHUMT00000083434
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,819,826 - 48,820,742 (-)MPROMDB
RGD ID:6809401
Promoter ID:HG_KWN:66741
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000083421,   OTTHUMT00000083426,   UC004DMJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,821,276 - 48,822,877 (-)MPROMDB
RGD ID:6808977
Promoter ID:HG_KWN:66742
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000322995,   ENST00000376358,   ENST00000376361,   ENST00000376368,   NM_001029896,   OTTHUMT00000083424,   OTTHUMT00000083430,   UC004DML.1,   UC004DMM.1,   UC004DMN.1,   UC010NIM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,824,324 - 48,824,824 (-)MPROMDB
RGD ID:6851210
Promoter ID:EP73402
Type:initiation region
Name:HS_JM5
Description:JM5 protein.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,824,506 - 48,824,566EPD
RGD ID:6809404
Promoter ID:HG_KWN:66744
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_007075,   OTTHUMT00000083425,   OTTHUMT00000083427,   OTTHUMT00000083428,   OTTHUMT00000083429,   UC004DMO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,844,896 - 48,845,396 (-)MPROMDB
RGD ID:13605284
Promoter ID:EPDNEW_H28825
Type:initiation region
Name:WDR45_1
Description:WD repeat domain 45
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28826  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,079,883 - 49,079,943EPDNEW
RGD ID:13605282
Promoter ID:EPDNEW_H28826
Type:initiation region
Name:WDR45_2
Description:WD repeat domain 45
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28825  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,101,144 - 49,101,204EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001029896.2(WDR45):c.974-9del deletion Neurodegeneration with brain iron accumulation 5 [RCV000558234] ChrX:49074921 [GRCh38]
ChrX:48932580 [GRCh37]
ChrX:Xp11.23
benign
NM_001029896.2(WDR45):c.1002_1003AT[1] (p.Tyr335fs) microsatellite Neurodegeneration with brain iron accumulation 5 [RCV000034828]|not provided [RCV000413002] ChrX:49074881..49074882 [GRCh38]
ChrX:48932540..48932541 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.697C>T (p.Arg233Ter) single nucleotide variant Global developmental delay [RCV000415276]|Inborn genetic diseases [RCV000623979]|Neurodegeneration with brain iron accumulation 5 [RCV000034829]|not provided [RCV000254714] ChrX:49075573 [GRCh38]
ChrX:48933232 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.516G>C (p.Val172=) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000034830] ChrX:49075866 [GRCh38]
ChrX:48933525 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.434dup (p.Leu147fs) duplication Neurodegeneration with brain iron accumulation 5 [RCV000034831] ChrX:49076431..49076432 [GRCh38]
ChrX:48934090..48934091 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.634C>T (p.Gln212Ter) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000034832] ChrX:49075636 [GRCh38]
ChrX:48933295 [GRCh37]
ChrX:Xp11.23
pathogenic
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_007075.3(WDR45):c.-46_-43delGAAA microsatellite not specified [RCV000602685] ChrX:49100230..49100233 [GRCh38]
ChrX:48957168..48957171 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001029896.2(WDR45):c.38G>C (p.Arg13Pro) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV001046795]|not provided [RCV000521286] ChrX:49078058 [GRCh38]
ChrX:48935717 [GRCh37]
ChrX:Xp11.23
likely pathogenic|uncertain significance
NM_001029896.2(WDR45):c.307A>T (p.Lys103Ter) single nucleotide variant not provided [RCV000579140] ChrX:49076679 [GRCh38]
ChrX:48934338 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.155G>A (p.Gly52Asp) single nucleotide variant not provided [RCV000521533] ChrX:49077723 [GRCh38]
ChrX:48935382 [GRCh37]
ChrX:Xp11.23
uncertain significance
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 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 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
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
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 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
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 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
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
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
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
GRCh38/hg38 Xp11.23-11.22(chrX:47859417-52789530)x3 copy number gain See cases [RCV000052390] ChrX:47859417..52789530 [GRCh38]
ChrX:47835880..52818575 [GRCh37]
ChrX:47603760..52835300 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48344666-52664916)x2 copy number gain See cases [RCV000051992] ChrX:48344666..52664916 [GRCh38]
ChrX:48204101..52616581 [GRCh37]
ChrX:48089045..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23(chrX:48612125-49292405)x2 copy number gain See cases [RCV000054185] ChrX:48612125..49292405 [GRCh38]
ChrX:48510591..49148873 [GRCh37]
ChrX:48355457..49035817 [NCBI36]
ChrX:Xp11.23
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_001029896.2(WDR45):c.870C>G (p.Tyr290Ter) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000735636]|not provided [RCV000657778] ChrX:49075239 [GRCh38]
ChrX:48932898 [GRCh37]
ChrX:Xp11.23
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
NM_001029896.2(WDR45):c.185T>C (p.Leu62Pro) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV001004757] ChrX:49077693 [GRCh38]
ChrX:48935352 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001029896.2(WDR45):c.235+5G>A single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV001331686] ChrX:49077638 [GRCh38]
ChrX:48935297 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001029896.2(WDR45):c.826G>A (p.Ala276Thr) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV001291803] ChrX:49075365 [GRCh38]
ChrX:48933024 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001029896.2(WDR45):c.777del (p.Thr260fs) deletion Neurodegeneration with brain iron accumulation 5 [RCV000211102] ChrX:49075414 [GRCh38]
ChrX:48933073 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
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: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
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
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 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 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 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
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
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
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 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
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
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
GRCh38/hg38 Xp11.3-11.22(chrX:43361870-50931794)x3 copy number gain See cases [RCV000134956] ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48022053-52664916)x3 copy number gain See cases [RCV000135801] ChrX:48022053..52664916 [GRCh38]
ChrX:47881447..52616581 [GRCh37]
ChrX:47766391..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
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
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
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 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
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
GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
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 Xp11.23-11.22(chrX:48260861-52664916)x2 copy number gain See cases [RCV000136829] ChrX:48260861..52664916 [GRCh38]
ChrX:48120296..52616581 [GRCh37]
ChrX:48005240..52710691 [NCBI36]
ChrX:Xp11.23-11.22
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 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp11.3-11.23(chrX:44765664-49343053)x3 copy number gain See cases [RCV000137271] ChrX:44765664..49343053 [GRCh38]
ChrX:44624910..49218180 [GRCh37]
ChrX:44509854..49105124 [NCBI36]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x3 copy number gain See cases [RCV000138106] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52616581 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x1 copy number loss See cases [RCV000138107] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52693966 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
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
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48386298-52664916)x2 copy number gain See cases [RCV000139185] ChrX:48386298..52664916 [GRCh38]
ChrX:48245740..52616581 [GRCh37]
ChrX:48130684..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
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: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 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
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 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
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 Xp11.23-11.22(chrX:48953927-53273903)x2 copy number gain See cases [RCV000141869] ChrX:48953927..53273903 [GRCh38]
ChrX:48811187..53303085 [GRCh37]
ChrX:48696131..53319810 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
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 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
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 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
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
NM_001029896.2(WDR45):c.158_160TGG[1] (p.Val54del) microsatellite Cerebral-cerebellar-coloboma syndrome, X-linked [RCV000679877]|Neurodegeneration with brain iron accumulation 5 [RCV000203242] ChrX:49077715..49077717 [GRCh38]
ChrX:48935374..48935376 [GRCh37]
ChrX:Xp11.23
likely pathogenic|uncertain significance
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: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
hg18chrX:g.(48,802,381_48,809,279)_(48,829,265_48,854,335)del deletion Early onset epileptic encephalopathy [RCV000186607] ChrX:48922335..48942321 [GRCh37]
ChrX:48809279..48829265 [NCBI36]
ChrX:Xp11.23
pathogenic|likely pathogenic
NM_001029896.2(WDR45):c.235+18G>T single nucleotide variant not specified [RCV000178922] ChrX:49077625 [GRCh38]
ChrX:48935284 [GRCh37]
ChrX:Xp11.23
benign
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001029896.2(WDR45):c.827+2_827+3del deletion Neurodegeneration with brain iron accumulation 5 [RCV000195151] ChrX:49075361..49075362 [GRCh38]
ChrX:48933020..48933021 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter) single nucleotide variant Cerebral-cerebellar-coloboma syndrome, X-linked [RCV000679876]|Neurodegeneration with brain iron accumulation 5 [RCV000477948]|not provided [RCV000413483] ChrX:49076469 [GRCh38]
ChrX:48934128 [GRCh37]
ChrX:Xp11.23
pathogenic|likely pathogenic|uncertain significance
NM_001029896.2(WDR45):c.863G>T (p.Gly288Val) single nucleotide variant not specified [RCV000193205] ChrX:49075246 [GRCh38]
ChrX:48932905 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001029896.2(WDR45):c.516+1G>T single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000194153] ChrX:49075865 [GRCh38]
ChrX:48933524 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.966dup (p.Val323fs) duplication Neurodegeneration with brain iron accumulation 5 [RCV000194492] ChrX:49075142..49075143 [GRCh38]
ChrX:48932801..48932802 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001029896.2(WDR45):c.1030A>G (p.Asn344Asp) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000195088] ChrX:49074856 [GRCh38]
ChrX:48932515 [GRCh37]
ChrX:Xp11.23
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48310313-52614698)x1 copy number loss See cases [RCV000203435] ChrX:48310313..52614698 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
NM_001029896.2(WDR45):c.267G>C (p.Lys89Asn) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000554436] ChrX:49076719 [GRCh38]
ChrX:48934378 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001029896.2(WDR45):c.950_951dup (p.Lys318fs) duplication Neurodegeneration with brain iron accumulation 5 [RCV000578356] ChrX:49075157..49075158 [GRCh38]
ChrX:48932816..48932817 [GRCh37]
ChrX:Xp11.23
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001029896.2(WDR45):c.973+1G>A single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000209935] ChrX:49075135 [GRCh38]
ChrX:48932794 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001029896.2(WDR45):c.611G>A (p.Gly204Asp) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000234791] ChrX:49075659 [GRCh38]
ChrX:48933318 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001029896.2(WDR45):c.827+19C>T single nucleotide variant not specified [RCV000603677] ChrX:49075345 [GRCh38]
ChrX:48933004 [GRCh37]
ChrX:Xp11.23
likely benign
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
NM_001029896.2(WDR45):c.564C>T (p.Ile188=) single nucleotide variant not specified [RCV000604302] ChrX:49075706 [GRCh38]
ChrX:48933365 [GRCh37]
ChrX:Xp11.23
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001029896.2(WDR45):c.827+1G>A single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000578469]|Neurodegeneration with brain iron accumulation [RCV000845069]|not provided [RCV000255829] ChrX:49075363 [GRCh38]
ChrX:48933022 [GRCh37]
ChrX:Xp11.23
pathogenic|not provided
NM_001029896.2(WDR45):c.46C>T (p.Gln16Ter) single nucleotide variant Inborn genetic diseases [RCV000624728]|not provided [RCV000256125] ChrX:49078050 [GRCh38]
ChrX:48935709 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001029896.2(WDR45):c.19C>T (p.Arg7Ter) single nucleotide variant Global developmental delay [RCV001255400]|Inborn genetic diseases [RCV000624584]|Neurodegeneration with brain iron accumulation 5 [RCV000705613]|not provided [RCV000272581] ChrX:49078077 [GRCh38]
ChrX:48935736 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.663_664CA[2] (p.Gln223fs) microsatellite not provided [RCV000294806] ChrX:49075602..49075603 [GRCh38]
ChrX:48933261..48933262 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.771_772del (p.Asp257fs) deletion not provided [RCV000344935] ChrX:49075419..49075420 [GRCh38]
ChrX:48933078..48933079 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.936C>T (p.Phe312=) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000543547]|not specified [RCV000286525] ChrX:49075173 [GRCh38]
ChrX:48932832 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001029896.2(WDR45):c.838G>A (p.Val280Met) single nucleotide variant History of neurodevelopmental disorder [RCV000716062]|Neurodegeneration with brain iron accumulation 5 [RCV001083439]|not provided [RCV000714188]|not specified [RCV000286531] ChrX:49075271 [GRCh38]
ChrX:48932930 [GRCh37]
ChrX:Xp11.23
benign
NM_001029896.2(WDR45):c.584_585del (p.Ile195fs) deletion Neurodegeneration with brain iron accumulation 5 [RCV000850623]|not provided [RCV000362414] ChrX:49075685..49075686 [GRCh38]
ChrX:48933344..48933345 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.437-2A>G single nucleotide variant not provided [RCV000380857] ChrX:49075947 [GRCh38]
ChrX:48933606 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.332G>A (p.Arg111His) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV001299497]|not provided [RCV000489415] ChrX:49076654 [GRCh38]
ChrX:48934313 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001029896.2(WDR45):c.745T>G (p.Ser249Ala) single nucleotide variant not provided [RCV000585122] ChrX:49075446 [GRCh38]
ChrX:48933105 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_001029896.2(WDR45):c.746C>A (p.Ser249Tyr) single nucleotide variant not provided [RCV000585280] ChrX:49075445 [GRCh38]
ChrX:48933104 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001029896.2(WDR45):c.745_746inv (p.Ser249Asp) inversion Neurodegeneration with brain iron accumulation 5 [RCV000816007]|not provided [RCV000585552] ChrX:49075445..49075446 [GRCh38]
ChrX:48933104..48933105 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001029896.2(WDR45):c.827+12C>T single nucleotide variant not specified [RCV000607122] ChrX:49075352 [GRCh38]
ChrX:48933011 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001029896.2(WDR45):c.516+1_516+3del microsatellite Neurodegeneration with brain iron accumulation 5 [RCV000578306] ChrX:49075863..49075865 [GRCh38]
ChrX:48933522..48933524 [GRCh37]
ChrX:Xp11.23
pathogenic|likely pathogenic
NM_001029896.2(WDR45):c.487G>T (p.Gly163Ter) single nucleotide variant not provided [RCV000599222] ChrX:49075895 [GRCh38]
ChrX:48933554 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001029896.2(WDR45):c.599dup (p.Asn201fs) duplication not provided [RCV000599544] ChrX:49075670..49075671 [GRCh38]
ChrX:48933329..48933330 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.448C>G (p.Leu150Val) single nucleotide variant not provided [RCV000523931] ChrX:49075934 [GRCh38]
ChrX:48933593 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001029896.2(WDR45):c.808C>A (p.Arg270Ser) single nucleotide variant not specified [RCV000592115] ChrX:49075383 [GRCh38]
ChrX:48933042 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001029896.2(WDR45):c.827+5G>A single nucleotide variant not provided [RCV000412847] ChrX:49075359 [GRCh38]
ChrX:48933018 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001029896.2(WDR45):c.871G>A (p.Val291Met) single nucleotide variant not specified [RCV000413479] ChrX:49075238 [GRCh38]
ChrX:48932897 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x3 copy number gain See cases [RCV000449147] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x2 copy number gain See cases [RCV000447617] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_007075.3(WDR45):c.-385G>C single nucleotide variant not specified [RCV000441389] ChrX:49101067 [GRCh38]
ChrX:48958005 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_001029896.2(WDR45):c.56-12T>A single nucleotide variant not specified [RCV000444925] ChrX:49077923 [GRCh38]
ChrX:48935582 [GRCh37]
ChrX:Xp11.23
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001029896.2(WDR45):c.827+10C>G single nucleotide variant not specified [RCV000418259] ChrX:49075354 [GRCh38]
ChrX:48933013 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001029896.2(WDR45):c.*19T>A single nucleotide variant not specified [RCV000428401] ChrX:49074784 [GRCh38]
ChrX:48932443 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001029896.2(WDR45):c.944A>C (p.Asn315Thr) single nucleotide variant History of neurodevelopmental disorder [RCV000718540]|not specified [RCV000425180] ChrX:49075165 [GRCh38]
ChrX:48932824 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_001029896.2(WDR45):c.567T>C (p.Asn189=) single nucleotide variant not specified [RCV000432181] ChrX:49075703 [GRCh38]
ChrX:48933362 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001029896.2(WDR45):c.825C>T (p.Ser275=) single nucleotide variant not specified [RCV000435737] ChrX:49075366 [GRCh38]
ChrX:48933025 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001029896.2(WDR45):c.436+5G>A single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV001303363]|not provided [RCV000427230] ChrX:49076425 [GRCh38]
ChrX:48934084 [GRCh37]
ChrX:Xp11.23
likely pathogenic|uncertain significance
NM_001029896.2(WDR45):c.131-7T>C single nucleotide variant not specified [RCV000433430] ChrX:49077754 [GRCh38]
ChrX:48935413 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001029896.2(WDR45):c.130+13C>T single nucleotide variant not specified [RCV000436865] ChrX:49077824 [GRCh38]
ChrX:48935483 [GRCh37]
ChrX:Xp11.23
benign
NM_001029896.2(WDR45):c.351C>T (p.Ile117=) single nucleotide variant History of neurodevelopmental disorder [RCV000720641]|Neurodegeneration with brain iron accumulation 5 [RCV000609933]|not provided [RCV000714186]|not specified [RCV000440373] ChrX:49076515 [GRCh38]
ChrX:48934174 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_001029896.2(WDR45):c.135C>T (p.His45=) single nucleotide variant not specified [RCV000437090] ChrX:49077743 [GRCh38]
ChrX:48935402 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001029896.2(WDR45):c.930C>T (p.Cys310=) single nucleotide variant not specified [RCV000426836] ChrX:49075179 [GRCh38]
ChrX:48932838 [GRCh37]
ChrX:Xp11.23
likely benign
NM_007075.3(WDR45):c.-363A>T single nucleotide variant not specified [RCV000441005] ChrX:49100550 [GRCh38]
ChrX:48957488 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001029896.2(WDR45):c.55+2_55+3del deletion Neurodegeneration with brain iron accumulation 5 [RCV000417260] ChrX:49078038..49078039 [GRCh38]
ChrX:48935697..48935698 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.342-11G>C single nucleotide variant not specified [RCV000420553] ChrX:49076535 [GRCh38]
ChrX:48934194 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001029896.2(WDR45):c.341+18C>T single nucleotide variant not specified [RCV000430709] ChrX:49076627 [GRCh38]
ChrX:48934286 [GRCh37]
ChrX:Xp11.23
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001029896.2(WDR45):c.827+12del deletion not specified [RCV000484941] ChrX:49075352 [GRCh38]
ChrX:48933011 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001029896.2(WDR45):c.41T>C (p.Phe14Ser) single nucleotide variant not provided [RCV000485248] ChrX:49078055 [GRCh38]
ChrX:48935714 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001029896.2(WDR45):c.746_748CCT[1] (p.Ser250del) microsatellite Inborn genetic diseases [RCV001266673]|Neurodegeneration with brain iron accumulation 5 [RCV001242357]|not provided [RCV000486845] ChrX:49075440..49075442 [GRCh38]
ChrX:48933099..48933101 [GRCh37]
ChrX:Xp11.23
pathogenic|likely pathogenic
NM_001029896.2(WDR45):c.437-27A>C single nucleotide variant not specified [RCV000501103] ChrX:49075972 [GRCh38]
ChrX:48933631 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
NM_001029896.2(WDR45):c.500G>A (p.Gly167Glu) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000554794]|not provided [RCV000494456] ChrX:49075882 [GRCh38]
ChrX:48933541 [GRCh37]
ChrX:Xp11.23
pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001029896.2(WDR45):c.884G>A (p.Trp295Ter) single nucleotide variant not provided [RCV000493172] ChrX:49075225 [GRCh38]
ChrX:48932884 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.436G>A (p.Gly146Arg) single nucleotide variant not provided [RCV000714187] ChrX:49076430 [GRCh38]
ChrX:48934089 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001029896.2(WDR45):c.-17-15C>T single nucleotide variant not specified [RCV000605537] ChrX:49078127 [GRCh38]
ChrX:48935786 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001029896.2(WDR45):c.364C>T (p.Arg122Cys) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000533015] ChrX:49076502 [GRCh38]
ChrX:48934161 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001029896.2(WDR45):c.321T>C (p.Ser107=) single nucleotide variant not specified [RCV000600671] ChrX:49076665 [GRCh38]
ChrX:48934324 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001029896.2(WDR45):c.437-2A>C single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000538621] ChrX:49075947 [GRCh38]
ChrX:48933606 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.176G>C (p.Arg59Pro) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000539730] ChrX:49077702 [GRCh38]
ChrX:48935361 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001029896.2(WDR45):c.508C>T (p.Gln170Ter) single nucleotide variant Inborn genetic diseases [RCV000624568] ChrX:49075874 [GRCh38]
ChrX:48933533 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.725+20G>A single nucleotide variant not specified [RCV000601730] ChrX:49075525 [GRCh38]
ChrX:48933184 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001029896.2(WDR45):c.378C>T (p.Tyr126=) single nucleotide variant not specified [RCV000616009] ChrX:49076488 [GRCh38]
ChrX:48934147 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001029896.2(WDR45):c.516+1G>A single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000689103]|not provided [RCV000656299] ChrX:49075865 [GRCh38]
ChrX:48933524 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.-17-19T>G single nucleotide variant not specified [RCV000610781] ChrX:49078131 [GRCh38]
ChrX:48935790 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001029896.2(WDR45):c.408dup (p.Glu137Ter) duplication History of neurodevelopmental disorder [RCV000715979]|Neurodegeneration with brain iron accumulation 5 [RCV000650353] ChrX:49076457..49076458 [GRCh38]
ChrX:48934116..48934117 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.317T>C (p.Leu106Pro) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000650358] ChrX:49076669 [GRCh38]
ChrX:48934328 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001029896.2(WDR45):c.136G>A (p.Glu46Lys) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000650357] ChrX:49077742 [GRCh38]
ChrX:48935401 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001029896.2(WDR45):c.301T>C (p.Phe101Leu) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000650356] ChrX:49076685 [GRCh38]
ChrX:48934344 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001029896.2(WDR45):c.254C>T (p.Ala85Val) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000650355] ChrX:49076732 [GRCh38]
ChrX:48934391 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001029896.2(WDR45):c.131-2A>G single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000650354] ChrX:49077749 [GRCh38]
ChrX:48935408 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_007075.3(WDR45):c.-372T>C single nucleotide variant not specified [RCV000613762] ChrX:49101054 [GRCh38]
ChrX:48957992 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001029896.2(WDR45):c.680_689del (p.Lys227fs) deletion not provided [RCV000627654] ChrX:49075581..49075590 [GRCh38]
ChrX:48933240..48933249 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.974-1G>A single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000627053] ChrX:49074913 [GRCh38]
ChrX:48932572 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.-12C>T single nucleotide variant not specified [RCV000611605] ChrX:49078107 [GRCh38]
ChrX:48935766 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001029896.2(WDR45):c.341+16A>T single nucleotide variant not specified [RCV000614453] ChrX:49076629 [GRCh38]
ChrX:48934288 [GRCh37]
ChrX:Xp11.23
likely benign
NC_000023.10:g.(?_48755773)_(48935774_?)dup duplication SLC35A2-CDG [RCV000651315] ChrX:48755773..48935774 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001029896.2(WDR45):c.337G>A (p.Asp113Asn) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000934744]|not specified [RCV000611949] ChrX:49076649 [GRCh38]
ChrX:48934308 [GRCh37]
ChrX:Xp11.23
benign|likely benign
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48224454-52813336)x3 copy number gain See cases [RCV000512224] ChrX:48224454..52813336 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_001029896.2(WDR45):c.574C>T (p.Gln192Ter) single nucleotide variant not provided [RCV000578879] ChrX:49075696 [GRCh38]
ChrX:48933355 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.618A>G (p.Val206=) single nucleotide variant not specified [RCV000605659] ChrX:49075652 [GRCh38]
ChrX:48933311 [GRCh37]
ChrX:Xp11.23
likely benign
GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4 copy number gain See cases [RCV000512561] ChrX:48290189..52154997 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_001029896.2(WDR45):c.352G>A (p.Val118Met) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000655955] ChrX:49076514 [GRCh38]
ChrX:48934173 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001029896.2(WDR45):c.760G>A (p.Ala254Thr) single nucleotide variant not provided [RCV000658190] ChrX:49075431 [GRCh38]
ChrX:48933090 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001029896.2(WDR45):c.131-11_145del deletion Cerebral-cerebellar-coloboma syndrome, X-linked [RCV000679878] ChrX:49077733..49077758 [GRCh38]
ChrX:48935392..48935417 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48156672-52672728)x1 copy number loss not provided [RCV000684331] ChrX:48156672..52672728 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
NM_001029896.2(WDR45):c.398G>A (p.Arg133Gln) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000707431] ChrX:49076468 [GRCh38]
ChrX:48934127 [GRCh37]
ChrX:Xp11.23
likely benign|uncertain significance
NM_001029896.2(WDR45):c.405_410GTTTGA[1] (p.Glu137_Phe138del) microsatellite Neurodegeneration with brain iron accumulation 5 [RCV000692175] ChrX:49076450..49076455 [GRCh38]
ChrX:48934109..48934114 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001029896.2(WDR45):c.210_213dup (p.Pro72Ter) duplication Neurodegeneration with brain iron accumulation 5 [RCV000687313] ChrX:49077664..49077665 [GRCh38]
ChrX:48935323..48935324 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.257G>A (p.Arg86Gln) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000693149]|not provided [RCV000999422] ChrX:49076729 [GRCh38]
ChrX:48934388 [GRCh37]
ChrX:Xp11.23
benign|likely benign|uncertain significance
NM_001029896.2(WDR45):c.827+1G>C single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000695691] ChrX:49075363 [GRCh38]
ChrX:48933022 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.881A>G (p.Gln294Arg) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000696196] ChrX:49075228 [GRCh38]
ChrX:48932887 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001029896.2(WDR45):c.566A>G (p.Asn189Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000718509]|Neurodegeneration with brain iron accumulation 5 [RCV000689513] ChrX:49075704 [GRCh38]
ChrX:48933363 [GRCh37]
ChrX:Xp11.23
likely benign|uncertain significance
NM_001029896.2(WDR45):c.655_656CT[1] (p.Leu219_Phe220insTer) microsatellite Neurodegeneration with brain iron accumulation 5 [RCV000714536] ChrX:49075612..49075613 [GRCh38]
ChrX:48933271..48933272 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001029896.2(WDR45):c.225dup (p.Glu76fs) duplication Autistic disorder of childhood onset [RCV001004010] ChrX:49077652..49077653 [GRCh38]
ChrX:48935311..48935312 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001029896.2(WDR45):c.973+5_973+10del deletion History of neurodevelopmental disorder [RCV000719306] ChrX:49075126..49075131 [GRCh38]
ChrX:48932785..48932790 [GRCh37]
ChrX:Xp11.23
likely pathogenic|uncertain significance
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_001029896.2(WDR45):c.2T>A (p.Met1Lys) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000760207]|not provided [RCV000999424] ChrX:49078094 [GRCh38]
ChrX:48935753 [GRCh37]
ChrX:Xp11.23
pathogenic|likely pathogenic
NM_001029896.2(WDR45):c.766_794del (p.Asp257fs) deletion not provided [RCV000762635] ChrX:49075397..49075425 [GRCh38]
ChrX:48933056..48933084 [GRCh37]
ChrX:Xp11.23
pathogenic|likely pathogenic
NM_001029896.2(WDR45):c.584T>G (p.Ile195Arg) single nucleotide variant not provided [RCV000762636] ChrX:49075686 [GRCh38]
ChrX:48933345 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001029896.2(WDR45):c.52C>T (p.Gln18Ter) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV001194319]|not provided [RCV000760729] ChrX:49078044 [GRCh38]
ChrX:48935703 [GRCh37]
ChrX:Xp11.23
pathogenic|likely pathogenic
NM_001029896.2(WDR45):c.170T>C (p.Leu57Pro) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000990820] ChrX:49077708 [GRCh38]
ChrX:48935367 [GRCh37]
ChrX:Xp11.23
likely pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
NM_001029896.2(WDR45):c.694C>T (p.Arg232Cys) single nucleotide variant Intellectual disability [RCV001260809]|not provided [RCV000993551] ChrX:49075576 [GRCh38]
ChrX:48933235 [GRCh37]
ChrX:Xp11.23
likely pathogenic|uncertain significance
NM_001029896.2(WDR45):c.624C>T (p.Ala208=) single nucleotide variant not provided [RCV000920552] ChrX:49075646 [GRCh38]
ChrX:48933305 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001029896.2(WDR45):c.69C>T (p.Cys23=) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000879239] ChrX:49077898 [GRCh38]
ChrX:48935557 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001029896.2(WDR45):c.200G>A (p.Gly67Asp) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV001042261] ChrX:49077678 [GRCh38]
ChrX:48935337 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001029896.2(WDR45):c.247G>T (p.Asp83Tyr) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV001037609] ChrX:49076739 [GRCh38]
ChrX:48934398 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001029896.2(WDR45):c.457del (p.Ser153fs) deletion Neurodegeneration with brain iron accumulation 5 [RCV001052729] ChrX:49075925 [GRCh38]
ChrX:48933584 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.870C>T (p.Tyr290=) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000768137]|not provided [RCV000928659] ChrX:49075239 [GRCh38]
ChrX:48932898 [GRCh37]
ChrX:Xp11.23
benign|uncertain significance
NM_001029896.2(WDR45):c.183C>A (p.Asn61Lys) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV001052749]|not provided [RCV001091505] ChrX:49077695 [GRCh38]
ChrX:48935354 [GRCh37]
ChrX:Xp11.23
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001029896.2(WDR45):c.836G>A (p.Arg279His) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV001034373] ChrX:49075273 [GRCh38]
ChrX:48932932 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001029896.2(WDR45):c.437-3T>G single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000791938] ChrX:49075948 [GRCh38]
ChrX:48933607 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001029896.2(WDR45):c.621G>A (p.Val207=) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000941709] ChrX:49075649 [GRCh38]
ChrX:48933308 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001029896.2(WDR45):c.759C>T (p.Cys253=) single nucleotide variant not provided [RCV000941837] ChrX:49075432 [GRCh38]
ChrX:48933091 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001029896.2(WDR45):c.974-10C>A single nucleotide variant not provided [RCV000942645] ChrX:49074922 [GRCh38]
ChrX:48932581 [GRCh37]
ChrX:Xp11.23
benign
NM_001029896.2(WDR45):c.437-1G>A single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000825010] ChrX:49075946 [GRCh38]
ChrX:48933605 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001029896.2(WDR45):c.389A>C (p.Asp130Ala) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000821877] ChrX:49076477 [GRCh38]
ChrX:48934136 [GRCh37]
ChrX:Xp11.23
uncertain significance
NC_000023.11:g.48930034_48935858del deletion Neurodegeneration with brain iron accumulation 5 [RCV000785976] ChrX:48930034..48935858 [GRCh38]
ChrX:Xp11.23
likely pathogenic
NM_001029896.2(WDR45):c.1036G>T (p.Glu346Ter) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000797757] ChrX:49074850 [GRCh38]
ChrX:48932509 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001029896.2(WDR45):c.695G>A (p.Arg232His) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000792874] ChrX:49075575 [GRCh38]
ChrX:48933234 [GRCh37]
ChrX:Xp11.23
likely pathogenic|uncertain significance
NM_001029896.2(WDR45):c.827+2dup duplication Neurodegeneration with brain iron accumulation 5 [RCV000797274] ChrX:49075361..49075362 [GRCh38]
ChrX:48933020..48933021 [GRCh37]
ChrX:Xp11.23
conflicting interpretations of pathogenicity|uncertain significance
NM_001029896.2(WDR45):c.56-2A>G single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000804443] ChrX:49077913 [GRCh38]
ChrX:48935572 [GRCh37]
ChrX:Xp11.23
pathogenic|likely pathogenic
NM_001029896.2(WDR45):c.950C>T (p.Ser317Phe) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000806026] ChrX:49075159 [GRCh38]
ChrX:48932818 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001029896.2(WDR45):c.235+197T>G single nucleotide variant not provided [RCV000833778] ChrX:49077446 [GRCh38]
ChrX:48935105 [GRCh37]
ChrX:Xp11.23
benign
NM_001029896.2(WDR45):c.437-6C>A single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000812124] ChrX:49075951 [GRCh38]
ChrX:48933610 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001029896.2(WDR45):c.341+4A>C single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000787276] ChrX:49076641 [GRCh38]
ChrX:48934300 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001029896.2(WDR45):c.236-18C>T single nucleotide variant not provided [RCV000842715] ChrX:49076768 [GRCh38]
ChrX:48934427 [GRCh37]
ChrX:Xp11.23
likely benign
GRCh37/hg19 Xp11.23-11.22(chrX:48224266-52744574)x2 copy number gain not provided [RCV000847795] ChrX:48224266..52744574 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001029896.2(WDR45):c.659_660del (p.Leu219_Phe220insTer) deletion not provided [RCV001091502] ChrX:49075610..49075611 [GRCh38]
ChrX:48933269..48933270 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.235+2T>G single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000990819] ChrX:49077641 [GRCh38]
ChrX:48935300 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.91A>G (p.Ile31Val) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000817703] ChrX:49077876 [GRCh38]
ChrX:48935535 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001029896.2(WDR45):c.1005T>A (p.Tyr335Ter) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000820924] ChrX:49074881 [GRCh38]
ChrX:48932540 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.974-4C>A single nucleotide variant not provided [RCV000841443] ChrX:49074916 [GRCh38]
ChrX:48932575 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001029896.2(WDR45):c.261G>A (p.Glu87=) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000981287] ChrX:49076725 [GRCh38]
ChrX:48934384 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001029896.2(WDR45):c.246G>A (p.Trp82Ter) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000844934] ChrX:49076740 [GRCh38]
ChrX:48934399 [GRCh37]
ChrX:Xp11.23
not provided
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_001029896.2(WDR45):c.517-2A>G single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000816156] ChrX:49075755 [GRCh38]
ChrX:48933414 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.235+1G>A single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV001214756]|not provided [RCV001091504] ChrX:49077642 [GRCh38]
ChrX:48935301 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
NM_001029896.2(WDR45):c.342-2A>C single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000850624] ChrX:49076526 [GRCh38]
ChrX:48934185 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.437-4_437-2delinsT indel Neurodegeneration with brain iron accumulation 5 [RCV000986092] ChrX:49075947..49075949 [GRCh38]
ChrX:48933606..48933608 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.235+159C>G single nucleotide variant not provided [RCV000999423] ChrX:49077484 [GRCh38]
ChrX:48935143 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NC_000023.10:g.(?_48932442)_(48935774_?)del deletion Neurodegeneration with brain iron accumulation 5 [RCV001032857] ChrX:48932442..48935774 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.827+1G>T single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000990817] ChrX:49075363 [GRCh38]
ChrX:48933022 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.618del (p.Val207fs) deletion Neurodegeneration with brain iron accumulation 5 [RCV000990818] ChrX:49075652 [GRCh38]
ChrX:48933311 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001029896.2(WDR45):c.388G>A (p.Asp130Asn) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV001238685] ChrX:49076478 [GRCh38]
ChrX:48934137 [GRCh37]
ChrX:Xp11.23
likely benign|uncertain significance
NM_001029896.2(WDR45):c.437-6C>G single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV001220908] ChrX:49075951 [GRCh38]
ChrX:48933610 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_001029896.2(WDR45):c.773A>C (p.Lys258Thr) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV001202070] ChrX:49075418 [GRCh38]
ChrX:48933077 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001029896.2(WDR45):c.598_599del (p.Leu200fs) microsatellite Neurodegeneration with brain iron accumulation 5 [RCV001197735] ChrX:49075671..49075672 [GRCh38]
ChrX:48933330..48933331 [GRCh37]
ChrX:Xp11.23
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001029896.2(WDR45):c.20G>A (p.Arg7Gln) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000955092] ChrX:49078076 [GRCh38]
ChrX:48935735 [GRCh37]
ChrX:Xp11.23
benign
NM_001029896.2(WDR45):c.117G>A (p.Glu39=) single nucleotide variant not provided [RCV000883165] ChrX:49077850 [GRCh38]
ChrX:48935509 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001029896.2(WDR45):c.723C>T (p.Tyr241=) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV000977570] ChrX:49075547 [GRCh38]
ChrX:48933206 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001029896.2(WDR45):c.966T>A (p.Ser322=) single nucleotide variant not provided [RCV000932210] ChrX:49075143 [GRCh38]
ChrX:48932802 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001029896.2(WDR45):c.184C>G (p.Leu62Val) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV001203777] ChrX:49077694 [GRCh38]
ChrX:48935353 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001029896.2(WDR45):c.244del (p.Trp82fs) deletion not provided [RCV001091503] ChrX:49076742 [GRCh38]
ChrX:48934401 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.828-6C>T single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV001049245] ChrX:49075287 [GRCh38]
ChrX:48932946 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001029896.2(WDR45):c.604C>T (p.Gln202Ter) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV001235930] ChrX:49075666 [GRCh38]
ChrX:48933325 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.770dup (p.Asp257fs) duplication not provided [RCV001091501] ChrX:49075420..49075421 [GRCh38]
ChrX:48933079..48933080 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3 copy number gain not provided [RCV001007303] ChrX:48307437..50657313 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_001029896.2(WDR45):c.326G>A (p.Arg109His) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV001236016] ChrX:49076660 [GRCh38]
ChrX:48934319 [GRCh37]
ChrX:Xp11.23
likely benign|uncertain significance
NM_001029896.2(WDR45):c.1027del (p.Cys343fs) deletion Neurodegeneration with brain iron accumulation 5 [RCV001054071] ChrX:49074859 [GRCh38]
ChrX:48932518 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001029896.2(WDR45):c.10C>T (p.Gln4Ter) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV001218190] ChrX:49078086 [GRCh38]
ChrX:48935745 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.1005T>G (p.Tyr335Ter) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV001204597] ChrX:49074881 [GRCh38]
ChrX:48932540 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.827+5G>C single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV001210870] ChrX:49075359 [GRCh38]
ChrX:48933018 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001029896.2(WDR45):c.38G>A (p.Arg13His) single nucleotide variant not provided [RCV001200324] ChrX:49078058 [GRCh38]
ChrX:48935717 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001029896.2(WDR45):c.69_75del (p.Cys23fs) deletion Dystonia [RCV001004011] ChrX:49077892..49077898 [GRCh38]
ChrX:48935551..48935557 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.346G>A (p.Val116Met) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV001232356] ChrX:49076520 [GRCh38]
ChrX:48934179 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001029896.2(WDR45):c.1029dup (p.Asn344fs) duplication Neurodegeneration with brain iron accumulation 5 [RCV001214992] ChrX:49074856..49074857 [GRCh38]
ChrX:48932515..48932516 [GRCh37]
ChrX:Xp11.23
pathogenic|uncertain significance
NM_001029896.2(WDR45):c.226_230del (p.Glu76fs) deletion Neurodegeneration with brain iron accumulation 5 [RCV001062938] ChrX:49077648..49077652 [GRCh38]
ChrX:48935307..48935311 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.911C>T (p.Ala304Val) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV001215541] ChrX:49075198 [GRCh38]
ChrX:48932857 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001029896.2(WDR45):c.476T>C (p.Leu159Pro) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV001253656] ChrX:49075906 [GRCh38]
ChrX:48933565 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001029896.2(WDR45):c.787_800del (p.Ile263fs) deletion Intellectual disability [RCV001255354]|Neurodegeneration with brain iron accumulation 5 [RCV001253381] ChrX:49075391..49075404 [GRCh38]
ChrX:48933050..48933063 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.371_372del (p.Tyr124fs) deletion Neurodegeneration with brain iron accumulation 5 [RCV001254141] ChrX:49076494..49076495 [GRCh38]
ChrX:48934153..48934154 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.510dup (p.Leu171fs) duplication Neurodegeneration with brain iron accumulation 5 [RCV001252632] ChrX:49075871..49075872 [GRCh38]
ChrX:48933530..48933531 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.865C>T (p.Gln289Ter) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV001253570] ChrX:49075244 [GRCh38]
ChrX:48932903 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.180del (p.Asn61fs) deletion Inborn genetic diseases [RCV001265740] ChrX:49077698 [GRCh38]
ChrX:48935357 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.235+2T>C single nucleotide variant Inborn genetic diseases [RCV001266218] ChrX:49077641 [GRCh38]
ChrX:48935300 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2 copy number gain not provided [RCV001258953] ChrX:48102202..52685635 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2 copy number gain not provided [RCV001258954] ChrX:48178413..52686510 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_001029896.2(WDR45):c.1A>G (p.Met1Val) single nucleotide variant Intellectual disability [RCV001260829] ChrX:49078095 [GRCh38]
ChrX:48935754 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001029896.2(WDR45):c.982_984delinsTTG (p.Val328Leu) indel Neurodegeneration with brain iron accumulation 5 [RCV001262199] ChrX:49074902..49074904 [GRCh38]
ChrX:48932561..48932563 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001029896.2(WDR45):c.695G>T (p.Arg232Leu) single nucleotide variant Intellectual disability [RCV001260858] ChrX:49075575 [GRCh38]
ChrX:48933234 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001029896.2(WDR45):c.292G>T (p.Glu98Ter) single nucleotide variant Intellectual disability [RCV001260892] ChrX:49076694 [GRCh38]
ChrX:48934353 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.798_817del (p.Lys267fs) deletion not provided [RCV001267973] ChrX:49075374..49075393 [GRCh38]
ChrX:48933033..48933052 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.872_873insCCGT (p.Asp292fs) insertion not provided [RCV001268432] ChrX:49075236..49075237 [GRCh38]
ChrX:48932895..48932896 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001029896.2(WDR45):c.139C>T (p.Gln47Ter) single nucleotide variant Inborn genetic diseases [RCV001265671] ChrX:49077739 [GRCh38]
ChrX:48935398 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.139dup (p.Gln47fs) duplication Inborn genetic diseases [RCV001265975] ChrX:49077738..49077739 [GRCh38]
ChrX:48935397..48935398 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001029896.2(WDR45):c.81_82del (p.Gly28fs) deletion Global developmental delay [RCV001255399] ChrX:49077885..49077886 [GRCh38]
ChrX:48935544..48935545 [GRCh37]
ChrX:Xp11.23
pathogenic
NC_000023.10:g.(?_48382160)_(49856876_?)dup duplication Neurodegeneration with brain iron accumulation 5 [RCV001305099]|SLC35A2-CDG [RCV001308190] ChrX:48382160..49856876 [GRCh37]
ChrX:Xp11.23-11.22
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001029896.2(WDR45):c.88C>T (p.Arg30Cys) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV001327502] ChrX:49077879 [GRCh38]
ChrX:48935538 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001029896.2(WDR45):c.809G>A (p.Arg270His) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV001309442] ChrX:49075382 [GRCh38]
ChrX:48933041 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001029896.2(WDR45):c.974-2A>G single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV001323126] ChrX:49074914 [GRCh38]
ChrX:48932573 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001029896.2(WDR45):c.70G>A (p.Ala24Thr) single nucleotide variant Neurodegeneration with brain iron accumulation 5 [RCV001345172] ChrX:49077897 [GRCh38]
ChrX:48935556 [GRCh37]
ChrX:Xp11.23
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28912 AgrOrtholog
COSMIC WDR45 COSMIC
Ensembl Genes ENSG00000196998 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000348848 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000356345 UniProtKB/TrEMBL
  ENSP00000365543 UniProtKB/Swiss-Prot
  ENSP00000365546 UniProtKB/Swiss-Prot
  ENSP00000365551 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000379913 UniProtKB/TrEMBL
  ENSP00000393640 UniProtKB/TrEMBL
  ENSP00000397657 UniProtKB/TrEMBL
  ENSP00000417211 UniProtKB/TrEMBL
  ENSP00000417754 UniProtKB/TrEMBL
  ENSP00000418466 UniProtKB/TrEMBL
  ENSP00000418919 UniProtKB/TrEMBL
  ENSP00000419324 UniProtKB/TrEMBL
  ENSP00000419453 UniProtKB/TrEMBL
  ENSP00000419897 UniProtKB/TrEMBL
  ENSP00000420534 UniProtKB/TrEMBL
  ENSP00000420728 UniProtKB/TrEMBL
  ENSP00000488972 UniProtKB/Swiss-Prot
  ENSP00000488986 UniProtKB/TrEMBL
  ENSP00000489040 UniProtKB/TrEMBL
  ENSP00000489080 UniProtKB/TrEMBL
  ENSP00000489128 UniProtKB/TrEMBL
  ENSP00000489150 UniProtKB/TrEMBL
  ENSP00000489268 UniProtKB/TrEMBL
  ENSP00000489330 UniProtKB/TrEMBL
  ENSP00000489553 UniProtKB/TrEMBL
  ENSP00000489561 UniProtKB/TrEMBL
  ENSP00000490130 UniProtKB/TrEMBL
  ENSP00000490378 UniProtKB/TrEMBL
Ensembl Transcript ENST00000322995 UniProtKB/Swiss-Prot
  ENST00000356463 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000367375 UniProtKB/TrEMBL
  ENST00000376368 UniProtKB/Swiss-Prot
  ENST00000376372 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000396681 UniProtKB/TrEMBL
  ENST00000419567 UniProtKB/TrEMBL
  ENST00000423215 UniProtKB/TrEMBL
  ENST00000465382 UniProtKB/TrEMBL
  ENST00000471338 UniProtKB/TrEMBL
  ENST00000473974 UniProtKB/TrEMBL
  ENST00000474053 UniProtKB/TrEMBL
  ENST00000475880 UniProtKB/TrEMBL
  ENST00000475977 UniProtKB/TrEMBL
  ENST00000476728 UniProtKB/TrEMBL
  ENST00000485908 UniProtKB/TrEMBL
  ENST00000486337 UniProtKB/TrEMBL
  ENST00000634522 UniProtKB/TrEMBL
  ENST00000634559 UniProtKB/TrEMBL
  ENST00000634671 UniProtKB/TrEMBL
  ENST00000634736 UniProtKB/TrEMBL
  ENST00000634838 UniProtKB/TrEMBL
  ENST00000634849 UniProtKB/TrEMBL
  ENST00000634944 UniProtKB/Swiss-Prot
  ENST00000635003 UniProtKB/TrEMBL
  ENST00000635344 UniProtKB/TrEMBL
  ENST00000635666 UniProtKB/TrEMBL
  ENST00000636049 UniProtKB/TrEMBL
  ENST00000636645 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000196998 GTEx
HGNC ID HGNC:28912 ENTREZGENE
Human Proteome Map WDR45 Human Proteome Map
InterPro Citron UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WIPI4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11152 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 11152 ENTREZGENE
OMIM 300526 OMIM
  300894 OMIM
PANTHER PTHR11227:SF44 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CNH UniProtKB/TrEMBL
  WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134927673 PharmGKB
SMART WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024QYW6_HUMAN UniProtKB/TrEMBL
  A0A024QYX1 ENTREZGENE, UniProtKB/TrEMBL
  A0A0U1RQG6_HUMAN UniProtKB/TrEMBL
  A0A0U1RQJ7_HUMAN UniProtKB/TrEMBL
  A0A0U1RQM7_HUMAN UniProtKB/TrEMBL
  A0A0U1RQR1_HUMAN UniProtKB/TrEMBL
  A0A0U1RQS7_HUMAN UniProtKB/TrEMBL
  A0A0U1RR06_HUMAN UniProtKB/TrEMBL
  A0A0U1RR42_HUMAN UniProtKB/TrEMBL
  A0A0U1RRJ2_HUMAN UniProtKB/TrEMBL
  A0A0U1RRJ9_HUMAN UniProtKB/TrEMBL
  A0A1B0GV56_HUMAN UniProtKB/TrEMBL
  A0A1Y8EKY4_HUMAN UniProtKB/TrEMBL
  C9J0A8_HUMAN UniProtKB/TrEMBL
  C9J471_HUMAN UniProtKB/TrEMBL
  C9J5L0_HUMAN UniProtKB/TrEMBL
  C9J7Q8_HUMAN UniProtKB/TrEMBL
  C9JBX7_HUMAN UniProtKB/TrEMBL
  C9JE01_HUMAN UniProtKB/TrEMBL
  C9JUS5_HUMAN UniProtKB/TrEMBL
  C9JVT3_HUMAN UniProtKB/TrEMBL
  C9JYH8_HUMAN UniProtKB/TrEMBL
  G8JLI5_HUMAN UniProtKB/TrEMBL
  H0Y329_HUMAN UniProtKB/TrEMBL
  H7C4N7_HUMAN UniProtKB/TrEMBL
  H7C5B4_HUMAN UniProtKB/TrEMBL
  L0R5G8_HUMAN UniProtKB/TrEMBL
  Q9Y484 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6NGH5 UniProtKB/Swiss-Prot
  B7WPI2 UniProtKB/Swiss-Prot
  Q5MNZ5 UniProtKB/Swiss-Prot
  Q6IBS7 UniProtKB/Swiss-Prot
  Q6NT94 UniProtKB/Swiss-Prot
  Q96H03 UniProtKB/Swiss-Prot