CHRDL1 (chordin like 1) - Rat Genome Database

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Gene: CHRDL1 (chordin like 1) Homo sapiens
Analyze
Symbol: CHRDL1
Name: chordin like 1
RGD ID: 1349204
HGNC Page HGNC
Description: Involved in eye development. Predicted to localize to endoplasmic reticulum lumen and extracellular region. Implicated in megalocornea.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CHL; chordin-like 1; chordin-like protein 1; dA141H5.1; megalocornea 1 (X-linked); MGC1; MGCN; neuralin 1; neuralin-1; neurogenesin-1; NRLN1; ventroptin; VOPT
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX110,673,856 - 110,795,819 (-)EnsemblGRCh38hg38GRCh38
GRCh38X110,673,856 - 110,795,817 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X109,917,084 - 110,039,045 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X109,805,129 - 109,925,649 (-)NCBINCBI36hg18NCBI36
Build 34X109,724,618 - 109,845,138NCBI
CeleraX110,396,687 - 110,518,880 (-)NCBI
Cytogenetic MapXq23NCBI
HuRefX99,536,440 - 99,658,656 (-)NCBIHuRef
CHM1_1X109,828,368 - 109,950,621 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,7-dihydropurine-6-thione  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
antirheumatic drug  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
bromobenzene  (ISO)
Butylparaben  (ISO)
cadmium atom  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chromium atom  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dioxygen  (ISO)
dorsomorphin  (EXP)
entinostat  (EXP)
enzacamene  (ISO)
ethanol  (EXP,ISO)
folic acid  (EXP,ISO)
indometacin  (EXP)
mercaptopurine  (ISO)
mercury dibromide  (EXP)
methimazole  (ISO)
methylmercury chloride  (EXP,ISO)
mitoxantrone  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nickel sulfate  (EXP)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP,ISO)
phenylmercury acetate  (EXP)
potassium chromate  (EXP)
potassium dichromate  (ISO)
profenofos  (ISO)
progesterone  (ISO)
purine-6-thiol  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
Soman  (ISO)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
uranium atom  (EXP)
valproic acid  (EXP,ISO)
XL147  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:2571565   PMID:11118896   PMID:11441185   PMID:12477932   PMID:14702039   PMID:15342556   PMID:15489334   PMID:15621726   PMID:15772651   PMID:16385451   PMID:17029022   PMID:17881565  
PMID:18587495   PMID:19357253   PMID:20130390   PMID:21378988   PMID:22284829   PMID:24073597   PMID:25093588   PMID:25712132   PMID:26020825   PMID:26955889   PMID:26976638   PMID:28423564  
PMID:28514442   PMID:30021884  


Genomics

Comparative Map Data
CHRDL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX110,673,856 - 110,795,819 (-)EnsemblGRCh38hg38GRCh38
GRCh38X110,673,856 - 110,795,817 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X109,917,084 - 110,039,045 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X109,805,129 - 109,925,649 (-)NCBINCBI36hg18NCBI36
Build 34X109,724,618 - 109,845,138NCBI
CeleraX110,396,687 - 110,518,880 (-)NCBI
Cytogenetic MapXq23NCBI
HuRefX99,536,440 - 99,658,656 (-)NCBIHuRef
CHM1_1X109,828,368 - 109,950,621 (-)NCBICHM1_1
Chrdl1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X142,068,670 - 142,177,282 (-)NCBIGRCm39mm39
GRCm39 EnsemblX142,068,670 - 142,177,258 (-)Ensembl
GRCm38X143,285,674 - 143,394,263 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX143,285,674 - 143,394,262 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X139,720,217 - 139,828,805 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X138,544,347 - 138,640,552 (-)NCBImm8
CeleraX127,242,501 - 127,351,024 (-)NCBICelera
Cytogenetic MapXF2NCBI
Chrdl1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X106,889,125 - 106,992,937 (-)NCBI
Rnor_6.0 EnsemblX114,554,359 - 114,658,931 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X114,554,359 - 114,658,975 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X112,998,868 - 113,103,004 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X35,143,324 - 35,246,363 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X35,196,792 - 35,299,832 (+)NCBI
CeleraX106,298,521 - 106,402,293 (-)NCBICelera
Cytogenetic MapXq33NCBI
Chrdl1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554905,108,308 - 5,257,445 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554905,108,308 - 5,218,679 (+)NCBIChiLan1.0ChiLan1.0
CHRDL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X110,251,525 - 110,375,068 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX110,251,525 - 110,375,289 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X99,781,730 - 99,915,778 (-)NCBIMhudiblu_PPA_v0panPan3
CHRDL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X83,816,131 - 83,936,497 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX83,817,880 - 83,936,949 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX69,902,330 - 70,023,049 (-)NCBI
ROS_Cfam_1.0X85,474,229 - 85,594,632 (-)NCBI
UMICH_Zoey_3.1X82,954,985 - 83,076,135 (-)NCBI
UNSW_CanFamBas_1.0X84,638,644 - 84,759,034 (-)NCBI
UU_Cfam_GSD_1.0X84,466,847 - 84,587,260 (-)NCBI
Chrdl1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X83,070,399 - 83,183,059 (-)NCBI
SpeTri2.0NW_0049364994,474,899 - 4,587,563 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CHRDL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX90,703,422 - 90,827,210 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X90,703,422 - 90,827,216 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X104,266,419 - 104,398,294 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CHRDL1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X98,490,291 - 98,611,811 (-)NCBI
ChlSab1.1 EnsemblX98,489,874 - 98,611,951 (-)Ensembl
Vero_WHO_p1.0NW_02366606523,707,581 - 23,829,077 (-)NCBI
Chrdl1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248035,011,132 - 5,144,899 (+)NCBI

Position Markers
AL031572  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X110,005,935 - 110,006,090UniSTSGRCh37
Build 36X109,892,591 - 109,892,746RGDNCBI36
CeleraX110,485,529 - 110,485,684RGD
Cytogenetic MapXq23UniSTS
HuRefX99,624,648 - 99,624,803UniSTS
AL032584  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,977,311 - 109,977,441UniSTSGRCh37
Build 36X109,863,967 - 109,864,097RGDNCBI36
CeleraX110,456,902 - 110,457,032RGD
Cytogenetic MapXq23UniSTS
HuRefX99,596,047 - 99,596,177UniSTS
DXS7506  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,939,492 - 109,939,784UniSTSGRCh37
Build 36X109,826,148 - 109,826,440RGDNCBI36
CeleraX110,419,084 - 110,419,376RGD
Cytogenetic MapXq23UniSTS
HuRefX99,558,648 - 99,558,940UniSTS
Whitehead-YAC Contig MapX UniSTS
STS-AA018704  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,917,248 - 109,917,413UniSTSGRCh37
Build 36X109,803,904 - 109,804,069RGDNCBI36
CeleraX110,396,851 - 110,397,016RGD
Cytogenetic MapXq23UniSTS
HuRefX99,536,604 - 99,536,769UniSTS
GeneMap99-GB4 RH MapX283.62UniSTS
NCBI RH MapX556.2UniSTS
116YB8  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,988,088 - 109,988,284UniSTSGRCh37
Build 36X109,874,744 - 109,874,940RGDNCBI36
CeleraX110,467,679 - 110,467,875RGD
Cytogenetic MapXq23UniSTS
HuRefX99,606,852 - 99,607,048UniSTS
Whitehead-YAC Contig MapX UniSTS
AL022454  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,993,146 - 109,993,287UniSTSGRCh37
Build 36X109,879,802 - 109,879,943RGDNCBI36
CeleraX110,472,739 - 110,472,880RGD
Cytogenetic MapXq23UniSTS
DXS7756  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,951,747 - 109,951,815UniSTSGRCh37
Build 36X109,838,403 - 109,838,471RGDNCBI36
CeleraX110,431,338 - 110,431,406RGD
Cytogenetic MapXq23UniSTS
HuRefX99,570,896 - 99,570,964UniSTS
stSG622307  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371626,239,390 - 26,240,814UniSTSGRCh37
Build 361626,146,891 - 26,148,315RGDNCBI36
Celera1625,018,663 - 25,020,087RGD
HuRef1624,330,936 - 24,332,360UniSTS
AU048745  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p24.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map14q31.3UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map2q14.2-q14.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map15q24-q25UniSTS
Cytogenetic MapXq23UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7604
Count of miRNA genes:1098
Interacting mature miRNAs:1341
Transcripts:ENST00000218054, ENST00000372042, ENST00000372045, ENST00000394797, ENST00000434224, ENST00000444321, ENST00000482160
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
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 1938 1524 788 150 400 10 3108 985 2203 143 678 1304 141 1204 1898 1
Low 356 632 637 213 273 192 1176 1037 1477 137 672 149 26 1 869 1 1
Below cutoff 34 803 248 213 923 214 46 153 41 76 50 69 2 21

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001143981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001143982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001143983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_145234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_159734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA057564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL591489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY608913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY608914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP377491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC404314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000372042   ⟹   ENSP00000361112
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX110,673,856 - 110,795,817 (-)Ensembl
RefSeq Acc Id: ENST00000372045   ⟹   ENSP00000361115
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX110,673,856 - 110,795,765 (-)Ensembl
RefSeq Acc Id: ENST00000394797   ⟹   ENSP00000378276
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX110,675,245 - 110,795,765 (-)Ensembl
RefSeq Acc Id: ENST00000444321   ⟹   ENSP00000399739
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX110,676,057 - 110,795,819 (-)Ensembl
RefSeq Acc Id: ENST00000482160   ⟹   ENSP00000418443
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX110,675,941 - 110,795,819 (-)Ensembl
RefSeq Acc Id: NM_001143981   ⟹   NP_001137453
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,673,856 - 110,795,817 (-)NCBI
GRCh37X109,917,084 - 110,039,286 (-)RGD
GRCh37X109,917,084 - 110,039,286 (-)NCBI
CeleraX110,396,687 - 110,518,880 (-)RGD
HuRefX99,536,440 - 99,658,656 (-)ENTREZGENE
CHM1_1X109,828,368 - 109,950,621 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001143982   ⟹   NP_001137454
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,673,856 - 110,795,817 (-)NCBI
GRCh37X109,917,084 - 110,039,286 (-)RGD
GRCh37X109,917,084 - 110,039,286 (-)NCBI
CeleraX110,396,687 - 110,518,880 (-)RGD
HuRefX99,536,440 - 99,658,656 (-)ENTREZGENE
CHM1_1X109,828,368 - 109,950,621 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001143983   ⟹   NP_001137455
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,673,856 - 110,795,817 (-)NCBI
GRCh37X109,917,084 - 110,039,286 (-)RGD
GRCh37X109,917,084 - 110,039,286 (-)NCBI
CeleraX110,396,687 - 110,518,880 (-)RGD
HuRefX99,536,440 - 99,658,656 (-)ENTREZGENE
CHM1_1X109,828,368 - 109,950,621 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001367204   ⟹   NP_001354133
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,673,856 - 110,795,817 (-)NCBI
RefSeq Acc Id: NM_001367205   ⟹   NP_001354134
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,673,856 - 110,795,817 (-)NCBI
RefSeq Acc Id: NM_001367206   ⟹   NP_001354135
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,673,856 - 110,795,817 (-)NCBI
RefSeq Acc Id: NM_001367207   ⟹   NP_001354136
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,673,856 - 110,795,817 (-)NCBI
RefSeq Acc Id: NM_001367208   ⟹   NP_001354137
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,673,856 - 110,795,817 (-)NCBI
RefSeq Acc Id: NM_001367209   ⟹   NP_001354138
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,673,856 - 110,795,817 (-)NCBI
RefSeq Acc Id: NM_145234   ⟹   NP_660277
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,673,856 - 110,795,817 (-)NCBI
GRCh37X109,917,084 - 110,039,286 (-)RGD
GRCh37X109,917,084 - 110,039,286 (-)NCBI
Build 36X109,805,129 - 109,925,649 (-)NCBI Archive
CeleraX110,396,687 - 110,518,880 (-)RGD
HuRefX99,536,440 - 99,658,656 (-)ENTREZGENE
CHM1_1X109,828,368 - 109,950,411 (-)NCBI
Sequence:
RefSeq Acc Id: NR_159734
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,673,856 - 110,795,817 (-)NCBI
RefSeq Acc Id: XM_005262222   ⟹   XP_005262279
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,673,856 - 110,795,817 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001137453   ⟸   NM_001143981
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9BU40 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001137454   ⟸   NM_001143982
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9BU40 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001137455   ⟸   NM_001143983
- Peptide Label: isoform 4 precursor
- UniProtKB: Q9BU40 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_660277   ⟸   NM_145234
- Peptide Label: isoform 3 precursor
- UniProtKB: Q9BU40 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005262279   ⟸   XM_005262222
- Peptide Label: isoform X2
- UniProtKB: Q9BU40 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001354136   ⟸   NM_001367207
- Peptide Label: isoform 6 precursor
RefSeq Acc Id: NP_001354137   ⟸   NM_001367208
- Peptide Label: isoform 7 precursor
RefSeq Acc Id: NP_001354135   ⟸   NM_001367206
- Peptide Label: isoform 5 precursor
RefSeq Acc Id: NP_001354134   ⟸   NM_001367205
- Peptide Label: isoform 5 precursor
RefSeq Acc Id: NP_001354138   ⟸   NM_001367209
- Peptide Label: isoform 8 precursor
RefSeq Acc Id: NP_001354133   ⟸   NM_001367204
- Peptide Label: isoform 1 precursor
RefSeq Acc Id: ENSP00000361112   ⟸   ENST00000372042
RefSeq Acc Id: ENSP00000361115   ⟸   ENST00000372045
RefSeq Acc Id: ENSP00000418443   ⟸   ENST00000482160
RefSeq Acc Id: ENSP00000399739   ⟸   ENST00000444321
RefSeq Acc Id: ENSP00000378276   ⟸   ENST00000394797
Protein Domains
VWFC

Promoters
RGD ID:6808576
Promoter ID:HG_KWN:67759
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000372045,   ENST00000394797,   NM_001143981,   NM_001143982,   NM_001143983,   UC004EOX.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36X109,925,551 - 109,926,051 (-)MPROMDB
RGD ID:13627870
Promoter ID:EPDNEW_H29210
Type:initiation region
Name:CHRDL1_1
Description:chordin like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,795,817 - 110,795,877EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001143981.2(CHRDL1):c.782G>T (p.Cys261Phe) single nucleotide variant Megalocornea [RCV000022850] ChrX:110688800 [GRCh38]
ChrX:109932028 [GRCh37]
ChrX:Xq23
pathogenic
NM_001143981.2(CHRDL1):c.652C>T (p.Arg218Ter) single nucleotide variant Megalocornea [RCV000022853] ChrX:110694289 [GRCh38]
ChrX:109937517 [GRCh37]
ChrX:Xq23
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_001143981.2(CHRDL1):c.872del (p.Cys291fs) deletion Megalocornea [RCV000022849] ChrX:110688710 [GRCh38]
ChrX:109931938 [GRCh37]
ChrX:Xq23
pathogenic
NM_001143981.2(CHRDL1):c.100_101GA[1] (p.Glu34fs) microsatellite Megalocornea [RCV000022852] ChrX:110762799..110762800 [GRCh38]
ChrX:110006027..110006028 [GRCh37]
ChrX:Xq23
pathogenic
NM_001143981.1(CHRDL1):c.302-9235A>G single nucleotide variant Lung cancer [RCV000102171] ChrX:110730765 [GRCh38]
ChrX:109973993 [GRCh37]
ChrX:Xq23
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:10679-156022206)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)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:10679-156013167)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 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 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 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: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: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: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 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
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-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-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
NM_001143981.2(CHRDL1):c.301+2T>G single nucleotide variant Megalocornea [RCV000022851] ChrX:110759659 [GRCh38]
ChrX:110002887 [GRCh37]
ChrX:Xq23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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: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)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: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 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 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 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
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 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
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 Xp22.33-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 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
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 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001143981.2(CHRDL1):c.805_806TC[1] (p.His270fs) microsatellite Megalocornea [RCV000202388] ChrX:110688774..110688775 [GRCh38]
ChrX:109932002..109932003 [GRCh37]
ChrX:Xq23
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 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.1-23(chrX:100597687-111651116)x4 copy number gain See cases [RCV000136029] ChrX:100597687..111651116 [GRCh38]
ChrX:99852684..110894344 [GRCh37]
ChrX:99739340..110781000 [NCBI36]
ChrX:Xq22.1-23
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 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 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-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 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq23(chrX:110450492-111001421)x2 copy number gain See cases [RCV000137308] ChrX:110450492..111001421 [GRCh38]
ChrX:109693720..110244649 [GRCh37]
ChrX:109580376..110131305 [NCBI36]
ChrX:Xq23
uncertain significance
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 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 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 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 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xq21.32-23(chrX:93591590-112530092)x3 copy number gain See cases [RCV000139204] ChrX:93591590..112530092 [GRCh38]
ChrX:92846589..111773320 [GRCh37]
ChrX:92733245..111659976 [NCBI36]
ChrX:Xq21.32-23
pathogenic
GRCh38/hg38 Xq23(chrX:110359806-111260954)x3 copy number gain See cases [RCV000140082] ChrX:110359806..111260954 [GRCh38]
ChrX:109603034..110504182 [GRCh37]
ChrX:109489690..110390838 [NCBI36]
ChrX:Xq23
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-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 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq23(chrX:110132832-111177628)x3 copy number gain See cases [RCV000141767] ChrX:110132832..111177628 [GRCh38]
ChrX:109376060..110420856 [GRCh37]
ChrX:109262716..110307512 [NCBI36]
ChrX:Xq23
uncertain significance
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 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 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
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 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 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-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
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
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
CHRDL1, 2-BP DEL, 807TC deletion Megalocornea [RCV000186595] ChrX:Xq23 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 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [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 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24
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:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
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:71267-155234036)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
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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_001143981.2(CHRDL1):c.954A>G (p.Lys318=) single nucleotide variant not specified [RCV000242046] ChrX:110688628 [GRCh38]
ChrX:109931856 [GRCh37]
ChrX:Xq23
benign
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
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
NM_001143981.2(CHRDL1):c.520dup (p.Ser174fs) duplication Megalocornea [RCV000408611] ChrX:110719855..110719856 [GRCh38]
ChrX:109963083..109963084 [GRCh37]
ChrX:Xq23
pathogenic
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
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 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
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-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
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 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xq22.3-23(chrX:107370001-110989043)x1 copy number loss See cases [RCV000447004] ChrX:107370001..110989043 [GRCh37]
ChrX:Xq22.3-23
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
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 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: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
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
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 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067)x2 copy number gain See cases [RCV000448592] ChrX:103158718..111556067 [GRCh37]
ChrX:Xq22.2-23
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
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 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1 copy number loss See cases [RCV000511514] ChrX:86776682..114054291 [GRCh37]
ChrX:Xq21.31-23
pathogenic|uncertain significance
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
NM_001143981.2(CHRDL1):c.542-8A>G single nucleotide variant not provided [RCV000494316] ChrX:110700729 [GRCh38]
ChrX:109943957 [GRCh37]
ChrX:Xq23
likely pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq23(chrX:109938695-109940545)x0 copy number loss not provided [RCV000753705] ChrX:109938695..109940545 [GRCh37]
ChrX:Xq23
benign
GRCh37/hg19 Xq23(chrX:109938695-109942086)x0 copy number loss not provided [RCV000753706] ChrX:109938695..109942086 [GRCh37]
ChrX:Xq23
benign
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
Single allele duplication Schizophrenia [RCV000754364] ChrX:110074915..115196481 [GRCh38]
ChrX:Xq23
likely 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:60262-155245765)x1 copy number loss not provided [RCV000753271] 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:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
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
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_001143981.2(CHRDL1):c.45G>A (p.Ser15=) single nucleotide variant not provided [RCV000894627] ChrX:110792137 [GRCh38]
ChrX:110035365 [GRCh37]
ChrX:Xq23
benign
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_001143981.2(CHRDL1):c.626G>A (p.Arg209His) single nucleotide variant not provided [RCV000970397] ChrX:110694315 [GRCh38]
ChrX:109937543 [GRCh37]
ChrX:Xq23
benign
NM_001143981.2(CHRDL1):c.591A>G (p.Gln197=) single nucleotide variant not provided [RCV000898280] ChrX:110700672 [GRCh38]
ChrX:109943900 [GRCh37]
ChrX:Xq23
benign
NM_001143981.2(CHRDL1):c.1345T>C (p.Tyr449His) single nucleotide variant not provided [RCV000922265] ChrX:110676263 [GRCh38]
ChrX:109919491 [GRCh37]
ChrX:Xq23
benign
GRCh37/hg19 Xq22.3-23(chrX:105973323-110619655)x1 copy number loss not provided [RCV001007332] ChrX:105973323..110619655 [GRCh37]
ChrX:Xq22.3-23
likely pathogenic
NM_001143981.2(CHRDL1):c.105A>G (p.Thr35=) single nucleotide variant not provided [RCV000921116] ChrX:110762797 [GRCh38]
ChrX:110006025 [GRCh37]
ChrX:Xq23
likely benign
NM_001143981.2(CHRDL1):c.19A>G (p.Met7Val) single nucleotide variant not provided [RCV000940794] ChrX:110792163 [GRCh38]
ChrX:110035391 [GRCh37]
ChrX:Xq23
benign
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_001143981.2(CHRDL1):c.1151G>A (p.Arg384Gln) single nucleotide variant not provided [RCV000958349] ChrX:110681487 [GRCh38]
ChrX:109924715 [GRCh37]
ChrX:Xq23
benign
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq23(chrX:109418639-110180983)x1 copy number loss not provided [RCV001007333] ChrX:109418639..110180983 [GRCh37]
ChrX:Xq23
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
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_001143981.2(CHRDL1):c.909C>T (p.Cys303=) single nucleotide variant not provided [RCV000909678] ChrX:110688673 [GRCh38]
ChrX:109931901 [GRCh37]
ChrX:Xq23
benign
NM_001143981.2(CHRDL1):c.587G>A (p.Arg196Gln) single nucleotide variant not provided [RCV000911683] ChrX:110700676 [GRCh38]
ChrX:109943904 [GRCh37]
ChrX:Xq23
benign
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29861 AgrOrtholog
COSMIC CHRDL1 COSMIC
Ensembl Genes ENSG00000101938 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000361112 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000361115 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000378276 UniProtKB/Swiss-Prot
  ENSP00000399739 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000418443 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000372042 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000372045 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000394797 UniProtKB/Swiss-Prot
  ENST00000444321 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000482160 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000101938 GTEx
HGNC ID HGNC:29861 ENTREZGENE
Human Proteome Map CHRDL1 Human Proteome Map
InterPro VWF_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:91851 UniProtKB/Swiss-Prot
NCBI Gene 91851 ENTREZGENE
OMIM 300350 OMIM
  309300 OMIM
Pfam VWC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134933380 PharmGKB
PROSITE VWFC_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWFC_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART VWC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A452Q6Z9_HUMAN UniProtKB/TrEMBL
  CRDL1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B1AKD0 UniProtKB/Swiss-Prot
  B4DMP3 UniProtKB/Swiss-Prot
  D3DUY6 UniProtKB/Swiss-Prot
  E9PGS5 UniProtKB/Swiss-Prot
  Q539E4 UniProtKB/Swiss-Prot
  Q9Y3H7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-28 CHRDL1  chordin like 1    chordin-like 1  Symbol and/or name change 5135510 APPROVED
2016-04-05 CHRDL1  chordin-like 1  MGC1  megalocornea 1 (X-linked)  Data Merged 737654 PROVISIONAL
2011-09-01 CHRDL1  chordin-like 1  CHRDL1  chordin-like 1  Symbol and/or name change 5135510 APPROVED