CFP (complement factor properdin) - Rat Genome Database

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Gene: CFP (complement factor properdin) Homo sapiens
Analyze
Symbol: CFP
Name: complement factor properdin
RGD ID: 1351689
HGNC Page HGNC
Description: Predicted to be involved in defense response to other organism; neutrophil degranulation; and regulation of complement activation. Colocalizes with collagen-containing extracellular matrix. Implicated in X-linked properdin deficiency. Biomarker of factor VIII deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BFD; complement factor P; PFC; PFD; properdin; properdin P factor, complement
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 EnsemblX47,623,172 - 47,630,305 (-)EnsemblGRCh38hg38GRCh38
GRCh38X47,623,282 - 47,630,305 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X47,482,681 - 47,489,704 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X47,368,569 - 47,374,648 (-)NCBINCBI36hg18NCBI36
Build 34X47,239,878 - 47,245,958NCBI
CeleraX51,678,874 - 51,684,967 (-)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX45,196,561 - 45,202,654 (-)NCBIHuRef
CHM1_1X47,514,712 - 47,520,808 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:162484   PMID:1417780   PMID:1431505   PMID:1783405   PMID:2009915   PMID:2570030   PMID:3140783   PMID:3421908   PMID:6900901   PMID:7151327   PMID:7590866   PMID:7893437  
PMID:7911492   PMID:8530058   PMID:8630395   PMID:8871668   PMID:9127010   PMID:9710744   PMID:10861231   PMID:10878002   PMID:10909851   PMID:11090881   PMID:11513971   PMID:11733037  
PMID:12096136   PMID:12477932   PMID:12493642   PMID:14702039   PMID:15199963   PMID:15489334   PMID:15772651   PMID:16335952   PMID:16337490   PMID:16344560   PMID:18490764   PMID:18579773  
PMID:18753294   PMID:18791942   PMID:19005416   PMID:19204726   PMID:19322201   PMID:19584655   PMID:19913121   PMID:19934084   PMID:20122735   PMID:20337960   PMID:20382442   PMID:20530262  
PMID:20551380   PMID:20628086   PMID:21135110   PMID:22229731   PMID:22338105   PMID:22368277   PMID:22518841   PMID:22815489   PMID:22851705   PMID:23677468   PMID:24355864   PMID:24885016  
PMID:26660535   PMID:26871637   PMID:26984957   PMID:27183616   PMID:28069958   PMID:28086806   PMID:28105653   PMID:28264884   PMID:28480349   PMID:28514442   PMID:28533443   PMID:28784323  
PMID:29509190   PMID:30199474   PMID:30755730   PMID:32296183   PMID:32793201   PMID:32909942  


Genomics

Comparative Map Data
CFP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX47,623,172 - 47,630,305 (-)EnsemblGRCh38hg38GRCh38
GRCh38X47,623,282 - 47,630,305 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X47,482,681 - 47,489,704 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X47,368,569 - 47,374,648 (-)NCBINCBI36hg18NCBI36
Build 34X47,239,878 - 47,245,958NCBI
CeleraX51,678,874 - 51,684,967 (-)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX45,196,561 - 45,202,654 (-)NCBIHuRef
CHM1_1X47,514,712 - 47,520,808 (-)NCBICHM1_1
Cfp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X20,791,693 - 20,797,794 (-)NCBIGRCm39mm39
GRCm39 EnsemblX20,791,693 - 20,797,794 (-)Ensembl
GRCm38X20,925,454 - 20,931,555 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX20,925,454 - 20,931,555 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X20,502,661 - 20,508,650 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X20,082,494 - 20,088,465 (-)NCBImm8
CeleraX19,059,397 - 19,065,386 (-)NCBICelera
Cytogenetic MapXA1.3NCBI
cM MapX16.44NCBI
Cfp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X1,162,014 - 1,167,576 (+)NCBI
Rnor_6.0 EnsemblX1,311,121 - 1,316,682 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X1,311,121 - 1,316,683 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X2,126,142 - 2,131,704 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X12,584,709 - 12,590,271 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX1,730,903 - 1,736,462 (+)NCBICelera
Cytogenetic MapXq11NCBI
Cfp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955516449,993 - 456,492 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955516449,993 - 455,897 (+)NCBIChiLan1.0ChiLan1.0
CFP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X47,956,191 - 47,961,965 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX47,956,191 - 47,961,965 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X40,060,106 - 40,066,720 (-)NCBIMhudiblu_PPA_v0panPan3
CFP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X41,245,868 - 41,252,194 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX41,245,905 - 41,251,623 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX15,620,466 - 15,626,213 (-)NCBI
ROS_Cfam_1.0X41,379,663 - 41,385,406 (-)NCBI
UMICH_Zoey_3.1X41,367,204 - 41,372,947 (-)NCBI
UNSW_CanFamBas_1.0X41,355,500 - 41,361,239 (-)NCBI
UU_Cfam_GSD_1.0X41,448,168 - 41,453,913 (-)NCBI
LOC101961626
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X33,550,861 - 33,558,058 (-)NCBI
SpeTri2.0NW_00493650213,391,613 - 13,398,723 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CFP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX42,143,805 - 42,174,939 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X42,145,754 - 42,152,879 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X47,326,173 - 47,335,086 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103231897
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X44,801,388 - 44,807,177 (-)NCBI
ChlSab1.1 EnsemblX44,801,354 - 44,807,402 (-)Ensembl
Vero_WHO_p1.0NW_02366686812,398 - 18,196 (+)NCBI
Cfp
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624978180,352 - 194,467 (-)NCBI

Position Markers
RH93309  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,489,026 - 47,489,261UniSTSGRCh37
Build 36X47,373,970 - 47,374,205RGDNCBI36
CeleraX51,684,289 - 51,684,524RGD
Cytogenetic MapXp11.4UniSTS
HuRefX45,201,976 - 45,202,211UniSTS
GeneMap99-GB4 RH MapX143.34UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1959
Count of miRNA genes:791
Interacting mature miRNAs:951
Transcripts:ENST00000247153, ENST00000377005, ENST00000396992, ENST00000469388, ENST00000478222, ENST00000480317, ENST00000485991
Prediction methods:Microtar, Miranda, Pita, 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 2 2
Medium 122 799 95 87 1164 87 193 36 22 2 21 499 362 9
Low 2204 2035 1589 507 706 347 3653 1627 3551 300 1331 979 166 1 842 2338 3 2
Below cutoff 111 154 39 28 76 29 509 532 155 116 104 128 7 441 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF005664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF005665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF005666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH008009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL009172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY297813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB146591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF547995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M83652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X57748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X70872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000247153   ⟹   ENSP00000247153
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,624,214 - 47,630,305 (-)Ensembl
RefSeq Acc Id: ENST00000377005   ⟹   ENSP00000366204
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,625,988 - 47,629,965 (-)Ensembl
RefSeq Acc Id: ENST00000396992   ⟹   ENSP00000380189
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,624,214 - 47,629,965 (-)Ensembl
RefSeq Acc Id: ENST00000469388   ⟹   ENSP00000418258
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,626,807 - 47,629,895 (-)Ensembl
RefSeq Acc Id: ENST00000478222
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,624,213 - 47,626,580 (-)Ensembl
RefSeq Acc Id: ENST00000480317
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,628,122 - 47,629,952 (-)Ensembl
RefSeq Acc Id: ENST00000485991
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,624,559 - 47,629,895 (-)Ensembl
RefSeq Acc Id: ENST00000640573
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,623,172 - 47,628,742 (-)Ensembl
RefSeq Acc Id: NM_001145252   ⟹   NP_001138724
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,623,282 - 47,629,930 (-)NCBI
GRCh37X47,483,612 - 47,489,704 (-)ENTREZGENE
HuRefX45,196,561 - 45,202,654 (-)ENTREZGENE
CHM1_1X47,514,712 - 47,520,473 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002621   ⟹   NP_002612
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,624,213 - 47,630,305 (-)NCBI
GRCh37X47,483,612 - 47,489,704 (-)ENTREZGENE
Build 36X47,368,569 - 47,374,648 (-)NCBI Archive
HuRefX45,196,561 - 45,202,654 (-)ENTREZGENE
CHM1_1X47,514,712 - 47,520,808 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029575   ⟹   XP_016885064
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,624,213 - 47,629,450 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002612   ⟸   NM_002621
- Peptide Label: precursor
- UniProtKB: P27918 (UniProtKB/Swiss-Prot),   A0A0S2Z4I5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001138724   ⟸   NM_001145252
- Peptide Label: precursor
- UniProtKB: P27918 (UniProtKB/Swiss-Prot),   A0A0S2Z4I5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885064   ⟸   XM_017029575
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000418258   ⟸   ENST00000469388
RefSeq Acc Id: ENSP00000366204   ⟸   ENST00000377005
RefSeq Acc Id: ENSP00000247153   ⟸   ENST00000247153
RefSeq Acc Id: ENSP00000380189   ⟸   ENST00000396992
Protein Domains
TSP type-1

Promoters
RGD ID:6808716
Promoter ID:HG_KWN:66620
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000377005,   NM_001145252,   NM_002621,   UC004DII.1,   UC010NHU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X47,374,151 - 47,374,651 (-)MPROMDB
RGD ID:13605182
Promoter ID:EPDNEW_H28775
Type:initiation region
Name:CFP_1
Description:complement factor properdin
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
GRCh38X47,629,930 - 47,629,990EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001145252.3(CFP):c.481C>T (p.Arg161Ter) single nucleotide variant Properdin deficiency, X-linked [RCV000011931] ChrX:47627564 [GRCh38]
ChrX:47486963 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001145252.3(CFP):c.298C>T (p.Arg100Trp) single nucleotide variant Properdin deficiency, type II [RCV000011932] ChrX:47628207 [GRCh38]
ChrX:47487606 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001145252.3(CFP):c.893G>T (p.Gly298Val) single nucleotide variant Properdin deficiency, X-linked [RCV000011933] ChrX:47626820 [GRCh38]
ChrX:47486219 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001145252.3(CFP):c.617C>G (p.Ser206Ter) single nucleotide variant Properdin deficiency, X-linked [RCV000011934] ChrX:47627290 [GRCh38]
ChrX:47486689 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001145252.3(CFP):c.1240T>G (p.Tyr414Asp) single nucleotide variant Properdin deficiency, type III [RCV000011935] ChrX:47626062 [GRCh38]
ChrX:47485461 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 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 Xp11.4-11.23(chrX:41434043-47880733)x1 copy number loss See cases [RCV000053088] ChrX:41434043..47880733 [GRCh38]
ChrX:41293296..47619970 [GRCh37]
ChrX:41178240..47625076 [NCBI36]
ChrX:Xp11.4-11.23
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 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
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: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 Xp22.33-11.21(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-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 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 Xp22.33-11.22(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
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
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
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 Xp22.33-11.22(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: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: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: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-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 Xp22.33-11.23(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 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
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 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 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 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: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-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-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 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-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 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 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 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
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 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 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 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 Xp11.3-11.23(chrX:47437831-47845763)x2 copy number gain See cases [RCV000143111] ChrX:47437831..47845763 [GRCh38]
ChrX:47297230..47705162 [GRCh37]
ChrX:47182174..47590106 [NCBI36]
ChrX:Xp11.3-11.23
uncertain significance
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-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 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: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 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
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
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001145252.3(CFP):c.236G>A (p.Arg79Gln) single nucleotide variant not provided [RCV000224231] ChrX:47628269 [GRCh38]
ChrX:47487668 [GRCh37]
ChrX:Xp11.23
benign
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: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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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
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
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 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
GRCh37/hg19 Xp22.33-11.21(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 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 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 Xp22.33-11.21(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:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
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 Xp22.33-11.22(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:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-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 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 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001145252.3(CFP):c.1284C>T (p.Asn428=) single nucleotide variant not specified [RCV000455084] ChrX:47624401 [GRCh38]
ChrX:47483800 [GRCh37]
ChrX:Xp11.23
benign
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 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
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 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:46326268-48801984)x2 copy number gain See cases [RCV000511234] ChrX:46326268..48801984 [GRCh37]
ChrX:Xp11.3-11.23
likely pathogenic
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
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 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_001145252.3(CFP):c.18G>A (p.Ala6=) single nucleotide variant not provided [RCV000659158] ChrX:47629827 [GRCh38]
ChrX:47489226 [GRCh37]
ChrX:Xp11.23
likely benign
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
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-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
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)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:60262-155245765)x3 copy number gain not provided [RCV000753272] 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
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
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
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_001145252.3(CFP):c.895G>A (p.Asp299Asn) single nucleotide variant not provided [RCV000900313] ChrX:47626818 [GRCh38]
ChrX:47486217 [GRCh37]
ChrX:Xp11.23
benign
NM_001145252.3(CFP):c.611C>T (p.Pro204Leu) single nucleotide variant not provided [RCV000903838] ChrX:47627296 [GRCh38]
ChrX:47486695 [GRCh37]
ChrX:Xp11.23
benign
NM_001145252.3(CFP):c.77-9C>G single nucleotide variant not provided [RCV000920479] ChrX:47629683 [GRCh38]
ChrX:47489082 [GRCh37]
ChrX:Xp11.23
likely benign
GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622) copy number gain not provided [RCV000767648] ChrX:43507300..48929622 [GRCh37]
ChrX:Xp11.3-11.23
pathogenic
NM_001145252.3(CFP):c.1133-6T>C single nucleotide variant not provided [RCV000896813] ChrX:47626175 [GRCh38]
ChrX:47485574 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001145252.3(CFP):c.157G>A (p.Val53Met) single nucleotide variant not provided [RCV000903473] ChrX:47629594 [GRCh38]
ChrX:47488993 [GRCh37]
ChrX:Xp11.23
benign
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
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
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_001145252.3(CFP):c.748G>A (p.Gly250Ser) single nucleotide variant not provided [RCV000885368] ChrX:47627159 [GRCh38]
ChrX:47486558 [GRCh37]
ChrX:Xp11.23
benign
NM_001145252.3(CFP):c.1083C>T (p.Ala361=) single nucleotide variant not provided [RCV000941118] ChrX:47626377 [GRCh38]
ChrX:47485776 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001145252.3(CFP):c.87C>T (p.Pro29=) single nucleotide variant not provided [RCV000982518] ChrX:47629664 [GRCh38]
ChrX:47489063 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001145252.3(CFP):c.961T>G (p.Trp321Gly) single nucleotide variant not provided [RCV001091014] ChrX:47626499 [GRCh38]
ChrX:47485898 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001145252.3(CFP):c.663C>T (p.Ser221=) single nucleotide variant not provided [RCV000955997] ChrX:47627244 [GRCh38]
ChrX:47486643 [GRCh37]
ChrX:Xp11.23
benign
NM_001145252.3(CFP):c.716C>T (p.Pro239Leu) single nucleotide variant not provided [RCV001027815] ChrX:47627191 [GRCh38]
ChrX:47486590 [GRCh37]
ChrX:Xp11.23
uncertain significance
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_001145252.3(CFP):c.476G>A (p.Arg159His) single nucleotide variant Properdin deficiency, X-linked [RCV001267752] ChrX:47627569 [GRCh38]
ChrX:47486968 [GRCh37]
ChrX:Xp11.23
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_001145252.3(CFP):c.470G>A (p.Arg157Gln) single nucleotide variant not provided [RCV001318846] ChrX:47627575 [GRCh38]
ChrX:47486974 [GRCh37]
ChrX:Xp11.23
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8864 AgrOrtholog
COSMIC CFP COSMIC
Ensembl Genes ENSG00000126759 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000247153 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000366204 UniProtKB/TrEMBL
  ENSP00000380189 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000418258 UniProtKB/TrEMBL
Ensembl Transcript ENST00000247153 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000377005 UniProtKB/TrEMBL
  ENST00000396992 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000469388 UniProtKB/TrEMBL
Gene3D-CATH 2.20.100.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000126759 GTEx
HGNC ID HGNC:8864 ENTREZGENE
Human Proteome Map CFP Human Proteome Map
InterPro TSP1_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1_rpt_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5199 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5199 ENTREZGENE
OMIM 300383 OMIM
  312060 OMIM
Pfam TSP_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33206 PharmGKB
PROSITE TSP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TSP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF82895 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z4I5 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z515_HUMAN UniProtKB/TrEMBL
  B3KVK6_HUMAN UniProtKB/TrEMBL
  C9J7V5_HUMAN UniProtKB/TrEMBL
  E9PAQ1_HUMAN UniProtKB/TrEMBL
  L0R836_HUMAN UniProtKB/TrEMBL
  P27918 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary O15134 UniProtKB/Swiss-Prot
  O15135 UniProtKB/Swiss-Prot
  O15136 UniProtKB/Swiss-Prot
  O75826 UniProtKB/Swiss-Prot