ZNF711 (zinc finger protein 711) - Rat Genome Database

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Gene: ZNF711 (zinc finger protein 711) Homo sapiens
Analyze
Symbol: ZNF711
Name: zinc finger protein 711
RGD ID: 1347410
HGNC Page HGNC
Description: Exhibits sequence-specific DNA binding activity. Involved in positive regulation of transcription, DNA-templated. Localizes to nucleus. Implicated in non-syndromic X-linked intellectual disability 97.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CMPX1; dJ75N13.1; dJ75N13.1 (znf6-like); mental retardation, X-linked 65; MRX65; MRX97; Zfp711; zinc finger protein 6 (CMPX1); ZNF4; ZNF5; ZNF6
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 EnsemblX85,244,032 - 85,273,362 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX85,243,991 - 85,273,362 (+)EnsemblGRCh38hg38GRCh38
GRCh38X85,243,820 - 85,273,362 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X84,498,997 - 84,528,363 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X84,385,653 - 84,415,024 (+)NCBINCBI36hg18NCBI36
Build 34X84,305,235 - 84,333,072NCBI
CeleraX84,738,361 - 84,767,732 (+)NCBI
Cytogenetic MapXq21.1NCBI
HuRefX78,072,499 - 78,101,368 (+)NCBIHuRef
CHM1_1X84,392,701 - 84,421,999 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
nucleus  (IBA,IDA)

Molecular Function

References

Additional References at PubMed
PMID:1923752   PMID:8733041   PMID:9491611   PMID:10398247   PMID:12477932   PMID:15489334   PMID:15772651   PMID:16344560   PMID:17221867   PMID:19274049   PMID:19377476   PMID:20346720  
PMID:21384559   PMID:21873635   PMID:23376485   PMID:23414517   PMID:25281560   PMID:25665578   PMID:26188516   PMID:27993705   PMID:29180619   PMID:30585729   PMID:31091453   PMID:31753913  
PMID:32406922  


Genomics

Comparative Map Data
ZNF711
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX85,244,032 - 85,273,362 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX85,243,991 - 85,273,362 (+)EnsemblGRCh38hg38GRCh38
GRCh38X85,243,820 - 85,273,362 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X84,498,997 - 84,528,363 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X84,385,653 - 84,415,024 (+)NCBINCBI36hg18NCBI36
Build 34X84,305,235 - 84,333,072NCBI
CeleraX84,738,361 - 84,767,732 (+)NCBI
Cytogenetic MapXq21.1NCBI
HuRefX78,072,499 - 78,101,368 (+)NCBIHuRef
CHM1_1X84,392,701 - 84,421,999 (+)NCBICHM1_1
Zfp711
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X111,510,223 - 111,544,767 (+)NCBIGRCm39mm39
GRCm39 EnsemblX111,510,223 - 111,544,767 (+)Ensembl
GRCm38X112,600,526 - 112,635,070 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX112,600,526 - 112,635,070 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X109,714,135 - 109,748,671 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X108,717,470 - 108,743,017 (+)NCBImm8
CeleraX99,225,536 - 99,256,329 (+)NCBICelera
Cytogenetic MapXE1NCBI
Zfp711
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X77,646,300 - 77,679,398 (+)NCBI
Rnor_6.0 EnsemblX84,064,427 - 84,096,617 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X84,062,363 - 84,095,888 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X84,011,437 - 84,045,090 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X101,187,139 - 101,215,168 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX78,946,332 - 78,979,432 (+)NCBICelera
Cytogenetic MapXq31NCBI
Znf711
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555294,111,128 - 4,136,415 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555294,108,202 - 4,134,696 (+)NCBIChiLan1.0ChiLan1.0
ZNF711
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X84,424,414 - 84,453,640 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX84,424,414 - 84,453,640 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X74,314,161 - 74,343,246 (+)NCBIMhudiblu_PPA_v0panPan3
ZNF711
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X66,203,972 - 66,229,171 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX66,203,463 - 66,227,641 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX56,961,170 - 56,986,414 (+)NCBI
ROS_Cfam_1.0X67,535,617 - 67,560,856 (+)NCBI
UMICH_Zoey_3.1X65,183,316 - 65,208,559 (+)NCBI
UNSW_CanFamBas_1.0X66,820,121 - 66,845,363 (+)NCBI
UU_Cfam_GSD_1.0X66,412,311 - 66,437,559 (+)NCBI
Znf711
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X59,679,312 - 59,706,282 (+)NCBI
SpeTri2.0NW_0049365475,999,792 - 6,026,719 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZNF711
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX68,475,601 - 68,499,321 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X68,475,512 - 68,499,329 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X78,275,335 - 78,322,084 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ZNF711
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X74,093,028 - 74,121,805 (+)NCBI
ChlSab1.1 EnsemblX74,094,789 - 74,122,024 (+)Ensembl
Vero_WHO_p1.0NW_0236660676,715,412 - 6,744,125 (-)NCBI
Znf711
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248523,137,206 - 3,163,124 (-)NCBI

Position Markers
DXS1209  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X84,508,733 - 84,508,842UniSTSGRCh37
Build 36X84,395,389 - 84,395,498RGDNCBI36
CeleraX84,748,097 - 84,748,206RGD
Cytogenetic MapXq21.1UniSTS
HuRefX78,082,124 - 78,082,233UniSTS
Marshfield Genetic MapX57.91UniSTS
Marshfield Genetic MapX57.91RGD
Genethon Genetic MapX97.4UniSTS
deCODE Assembly MapX87.58UniSTS
AL022438  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X84,519,042 - 84,519,161UniSTSGRCh37
Build 36X84,405,698 - 84,405,817RGDNCBI36
CeleraX84,758,406 - 84,758,525RGD
Cytogenetic MapXq21.1UniSTS
HuRefX78,092,302 - 78,092,421UniSTS
NIB1445  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X84,528,116 - 84,528,307UniSTSGRCh37
Build 36X84,414,772 - 84,414,963RGDNCBI36
CeleraX84,767,480 - 84,767,671RGD
Cytogenetic MapXq21.1UniSTS
HuRefX78,101,116 - 78,101,307UniSTS
GeneMap99-GB4 RH MapX257.54UniSTS
Whitehead-RH MapX227.3UniSTS
Whitehead-YAC Contig MapX UniSTS
NCBI RH MapX531.7UniSTS
G19618  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X84,528,107 - 84,528,312UniSTSGRCh37
Build 36X84,414,763 - 84,414,968RGDNCBI36
CeleraX84,767,471 - 84,767,676RGD
Cytogenetic MapXq21.1UniSTS
HuRefX78,101,107 - 78,101,312UniSTS
A001T09  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X84,528,107 - 84,528,312UniSTSGRCh37
Build 36X84,414,763 - 84,414,968RGDNCBI36
CeleraX84,767,471 - 84,767,676RGD
Cytogenetic MapXq21.1UniSTS
HuRefX78,101,107 - 78,101,312UniSTS
GeneMap99-GB4 RH MapX256.94UniSTS
NCBI RH MapX531.7UniSTS
WI-14596  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X84,528,234 - 84,528,362UniSTSGRCh37
Build 36X84,414,890 - 84,415,018RGDNCBI36
CeleraX84,767,598 - 84,767,726RGD
Cytogenetic MapXq21.1UniSTS
HuRefX78,101,234 - 78,101,362UniSTS
GeneMap99-GB4 RH Map17307.04UniSTS
Whitehead-RH Map17339.2UniSTS
NCBI RH Map17431.3UniSTS
ZNF6__4707  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X84,526,151 - 84,526,955UniSTSGRCh37
Build 36X84,412,807 - 84,413,611RGDNCBI36
CeleraX84,765,515 - 84,766,319RGD
HuRefX78,099,151 - 78,099,955UniSTS
ZNF711  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X84,519,304 - 84,520,215UniSTSGRCh37
CeleraX84,758,668 - 84,759,579UniSTS
HuRefX78,092,564 - 78,093,475UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3795
Count of miRNA genes:724
Interacting mature miRNAs:861
Transcripts:ENST00000276123, ENST00000360700, ENST00000373165, ENST00000395402, ENST00000542798
Prediction methods:Miranda, Pita, Pita,Targetscan, 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 68 86 750 28 230 21 1183 42 1285 76 644 366 9 1 572 1
Low 2341 1940 679 304 877 151 2532 1385 2431 288 762 1185 157 1 1142 1691 1 1
Below cutoff 19 913 284 279 735 280 596 763 9 36 35 32 6 61 525 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC003001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY726603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB074057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000276123   ⟹   ENSP00000276123
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX85,244,084 - 85,271,921 (+)Ensembl
RefSeq Acc Id: ENST00000360700   ⟹   ENSP00000353922
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX85,244,765 - 85,273,362 (+)Ensembl
RefSeq Acc Id: ENST00000373165   ⟹   ENSP00000362260
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX85,244,032 - 85,273,360 (+)Ensembl
RefSeq Acc Id: ENST00000674551   ⟹   ENSP00000502839
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX85,243,991 - 85,273,357 (+)Ensembl
RefSeq Acc Id: NM_001330574   ⟹   NP_001317503
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,243,991 - 85,273,357 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001375431   ⟹   NP_001362360
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,243,991 - 85,273,357 (+)NCBI
RefSeq Acc Id: NM_001375432   ⟹   NP_001362361
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,243,991 - 85,273,357 (+)NCBI
RefSeq Acc Id: NM_001375433   ⟹   NP_001362362
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,243,991 - 85,273,357 (+)NCBI
RefSeq Acc Id: NM_001375434   ⟹   NP_001362363
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,243,991 - 85,273,357 (+)NCBI
RefSeq Acc Id: NM_001375435   ⟹   NP_001362364
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,243,991 - 85,273,357 (+)NCBI
RefSeq Acc Id: NM_001375436   ⟹   NP_001362365
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,243,991 - 85,273,357 (+)NCBI
RefSeq Acc Id: NM_001375437   ⟹   NP_001362366
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,243,991 - 85,273,357 (+)NCBI
RefSeq Acc Id: NM_021998   ⟹   NP_068838
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,243,991 - 85,273,357 (+)NCBI
GRCh37X84,498,826 - 84,528,368 (+)NCBI
Build 36X84,385,653 - 84,415,024 (+)NCBI Archive
CeleraX84,738,361 - 84,767,732 (+)RGD
HuRefX78,072,499 - 78,101,368 (+)RGD
CHM1_1X84,392,701 - 84,421,999 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005262187   ⟹   XP_005262244
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,243,820 - 85,273,362 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005262188   ⟹   XP_005262245
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,243,991 - 85,273,362 (+)NCBI
GRCh37X84,498,826 - 84,528,368 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531019   ⟹   XP_011529321
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,243,820 - 85,273,362 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531020   ⟹   XP_011529322
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,243,820 - 85,273,362 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531021   ⟹   XP_011529323
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,243,820 - 85,273,362 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531022   ⟹   XP_011529324
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,243,820 - 85,273,362 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531023   ⟹   XP_011529325
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,243,997 - 85,273,362 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531025   ⟹   XP_011529327
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,243,820 - 85,273,362 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029803   ⟹   XP_016885292
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,246,488 - 85,273,362 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029809   ⟹   XP_016885298
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,243,991 - 85,273,362 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001317503 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362360 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362361 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362362 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362363 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362364 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362365 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362366 (Get FASTA)   NCBI Sequence Viewer  
  NP_068838 (Get FASTA)   NCBI Sequence Viewer  
  XP_005262244 (Get FASTA)   NCBI Sequence Viewer  
  XP_005262245 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529321 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529322 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529323 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529324 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529325 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529327 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885292 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885298 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH06349 (Get FASTA)   NCBI Sequence Viewer  
  AAH67294 (Get FASTA)   NCBI Sequence Viewer  
  BAG58028 (Get FASTA)   NCBI Sequence Viewer  
  BAG61535 (Get FASTA)   NCBI Sequence Viewer  
  BAG61766 (Get FASTA)   NCBI Sequence Viewer  
  EAW98563 (Get FASTA)   NCBI Sequence Viewer  
  EAW98564 (Get FASTA)   NCBI Sequence Viewer  
  EAW98565 (Get FASTA)   NCBI Sequence Viewer  
  EAW98566 (Get FASTA)   NCBI Sequence Viewer  
  Q9Y462 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_068838   ⟸   NM_021998
- Peptide Label: isoform 2
- UniProtKB: Q9Y462 (UniProtKB/Swiss-Prot),   Q6PK66 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005262244   ⟸   XM_005262187
- Peptide Label: isoform X2
- UniProtKB: Q9Y462 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005262245   ⟸   XM_005262188
- Peptide Label: isoform X2
- UniProtKB: Q9Y462 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529321   ⟸   XM_011531019
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011529327   ⟸   XM_011531025
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011529323   ⟸   XM_011531021
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011529322   ⟸   XM_011531020
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011529324   ⟸   XM_011531022
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011529325   ⟸   XM_011531023
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016885298   ⟸   XM_017029809
- Peptide Label: isoform X4
- UniProtKB: Q9Y462 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885292   ⟸   XM_017029803
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001317503   ⟸   NM_001330574
- Peptide Label: isoform 1
- UniProtKB: Q9Y462 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001362362   ⟸   NM_001375433
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001362364   ⟸   NM_001375435
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001362365   ⟸   NM_001375436
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001362361   ⟸   NM_001375432
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001362366   ⟸   NM_001375437
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001362363   ⟸   NM_001375434
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001362360   ⟸   NM_001375431
- Peptide Label: isoform 1
RefSeq Acc Id: ENSP00000362260   ⟸   ENST00000373165
RefSeq Acc Id: ENSP00000353922   ⟸   ENST00000360700
RefSeq Acc Id: ENSP00000276123   ⟸   ENST00000276123
RefSeq Acc Id: ENSP00000502839   ⟸   ENST00000674551
Protein Domains
Zfx_Zfy_act

Promoters
RGD ID:6809434
Promoter ID:HG_KWN:67397
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:ENST00000395402,   NM_021998,   UC004EEP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X84,385,491 - 84,385,991 (+)MPROMDB
RGD ID:6809435
Promoter ID:HG_KWN:67398
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   K562,   Lymphoblastoid
Transcripts:UC004EEQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X84,385,866 - 84,386,662 (+)MPROMDB
RGD ID:13627556
Promoter ID:EPDNEW_H29054
Type:initiation region
Name:ZNF711_1
Description:zinc finger protein 711
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29055  EPDNEW_H29056  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,243,991 - 85,244,051EPDNEW
RGD ID:13627560
Promoter ID:EPDNEW_H29055
Type:initiation region
Name:ZNF711_2
Description:zinc finger protein 711
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29054  EPDNEW_H29056  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,244,133 - 85,244,193EPDNEW
RGD ID:13627562
Promoter ID:EPDNEW_H29056
Type:initiation region
Name:ZNF711_3
Description:zinc finger protein 711
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29054  EPDNEW_H29055  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X85,244,822 - 85,244,882EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001330574.2(ZNF711):c.1940A>G (p.Asn647Ser) single nucleotide variant ZNF711-Related X-linked Mental Retardation [RCV001329249]|not provided [RCV000520980] ChrX:85271344 [GRCh38]
ChrX:84526350 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001330574.2(ZNF711):c.2263_2264TG[1] (p.Cys755_Glu756delinsTer) microsatellite ZNF711-Related X-linked Mental Retardation [RCV000010416] ChrX:85271667..85271668 [GRCh38]
ChrX:84526673..84526674 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_021998.5(ZNF711):c.1573A>T (p.Arg525Ter) single nucleotide variant ZNF711-Related X-linked Mental Retardation [RCV000010417] ChrX:85271115 [GRCh38]
ChrX:84526121 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_021998.5(ZNF711):c.326G>C (p.Gly109Ala) single nucleotide variant ZNF711-Related X-linked Mental Retardation [RCV000723342] ChrX:85255505 [GRCh38]
ChrX:84510511 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001330574.2(ZNF711):c.304G>A (p.Glu102Lys) single nucleotide variant not provided [RCV000520250] ChrX:85255483 [GRCh38]
ChrX:84510489 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001330574.2(ZNF711):c.410C>T (p.Pro137Leu) single nucleotide variant not provided [RCV000522405] ChrX:85255589 [GRCh38]
ChrX:84510595 [GRCh37]
ChrX:Xq21.1
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 Xq21.1-21.31(chrX:79372269-91308122)x1 copy number loss See cases [RCV000050772] ChrX:79372269..91308122 [GRCh38]
ChrX:78627766..90563121 [GRCh37]
ChrX:78514422..90449777 [NCBI36]
ChrX:Xq21.1-21.31
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 Xq21.1-21.2(chrX:81762602-86457999)x1 copy number loss See cases [RCV000051707] ChrX:81762602..86457999 [GRCh38]
ChrX:81018101..85713002 [GRCh37]
ChrX:80904757..85599658 [NCBI36]
ChrX:Xq21.1-21.2
pathogenic
GRCh38/hg38 Xq21.1-21.2(chrX:81765008-86444979)x0 copy number loss See cases [RCV000051709] ChrX:81765008..86444979 [GRCh38]
ChrX:81020507..85699982 [GRCh37]
ChrX:80907163..85586638 [NCBI36]
ChrX:Xq21.1-21.2
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23
pathogenic
GRCh38/hg38 Xq21.1-21.2(chrX:80329330-86150446)x1 copy number loss See cases [RCV000051670] ChrX:80329330..86150446 [GRCh38]
ChrX:79584829..85405450 [GRCh37]
ChrX:79471485..85292106 [NCBI36]
ChrX:Xq21.1-21.2
pathogenic
GRCh38/hg38 Xq21.1-21.2(chrX:81762601-86471468)x1 copy number loss See cases [RCV000051673] ChrX:81762601..86471468 [GRCh38]
ChrX:81018100..85726471 [GRCh37]
ChrX:80904756..85613127 [NCBI36]
ChrX:Xq21.1-21.2
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 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 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 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-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-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_021998.4(ZNF711):c.1219G>A (p.Asp407Asn) single nucleotide variant Malignant melanoma [RCV000073263] ChrX:85270761 [GRCh38]
ChrX:84525767 [GRCh37]
ChrX:84412423 [NCBI36]
ChrX:Xq21.1
not provided
NM_021998.4(ZNF711):c.448T>G (p.Ser150Ala) single nucleotide variant Malignant melanoma [RCV000063977] ChrX:85255627 [GRCh38]
ChrX:84510633 [GRCh37]
ChrX:84397289 [NCBI36]
ChrX:Xq21.1
not provided
NM_001330574.2(ZNF711):c.-286+5C>T single nucleotide variant ZNF711-Related X-linked Mental Retardation [RCV000298380]|not specified [RCV000118963] ChrX:85246027 [GRCh38]
ChrX:84501033 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_021998.4(ZNF711):c.122_124delTTG (p.Val43del) deletion not provided [RCV000118964] ChrX:85255301..85255303 [GRCh38]
ChrX:84510307..84510309 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001330574.2(ZNF711):c.124_126GTT[1] (p.Val43del) microsatellite not provided [RCV000118965] ChrX:85255301..85255303 [GRCh38]
ChrX:84510307..84510309 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001330574.2(ZNF711):c.1464C>T (p.Val488=) single nucleotide variant ZNF711-Related X-linked Mental Retardation [RCV001166223]|not provided [RCV000923287]|not specified [RCV000118966] ChrX:85270868 [GRCh38]
ChrX:84525874 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_001330574.2(ZNF711):c.798A>G (p.Thr266=) single nucleotide variant History of neurodevelopmental disorder [RCV000720994]|ZNF711-Related X-linked Mental Retardation [RCV000353230]|not specified [RCV000118967] ChrX:85265137 [GRCh38]
ChrX:84520143 [GRCh37]
ChrX:Xq21.1
benign|likely benign
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)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 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 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 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
pathogenic
GRCh38/hg38 Xq21.1-21.2(chrX:81930916-85965282)x1 copy number loss See cases [RCV000135328] ChrX:81930916..85965282 [GRCh38]
ChrX:81186415..85220287 [GRCh37]
ChrX:81073071..85106943 [NCBI36]
ChrX:Xq21.1-21.2
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
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 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: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-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 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 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 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp22.33-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 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 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-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 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-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 Xq21.1-21.31(chrX:80722314-92152619)x0 copy number loss See cases [RCV000139635] ChrX:80722314..92152619 [GRCh38]
ChrX:79977813..91407618 [GRCh37]
ChrX:79864469..91294274 [NCBI36]
ChrX:Xq21.1-21.31
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 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 Xq21.1-23(chrX:81109470-109442793)x1 copy number loss See cases [RCV000142372] ChrX:81109470..109442793 [GRCh38]
ChrX:80364969..108686022 [GRCh37]
ChrX:80251625..108572678 [NCBI36]
ChrX:Xq21.1-23
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 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 Xq21.1-21.2(chrX:85089622-85949735)x2 copy number gain See cases [RCV000143106] ChrX:85089622..85949735 [GRCh38]
ChrX:84344628..85204740 [GRCh37]
ChrX:84231284..85091396 [NCBI36]
ChrX:Xq21.1-21.2
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 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 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)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-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
NM_001330574.2(ZNF711):c.1055-4_1055-3dup duplication not provided [RCV000154165] ChrX:85268268..85268269 [GRCh38]
ChrX:84523296..84523297 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001330574.2(ZNF711):c.579T>G (p.Asp193Glu) single nucleotide variant not specified [RCV000193089] ChrX:85255758 [GRCh38]
ChrX:84510764 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001330574.2(ZNF711):c.829G>A (p.Ala277Thr) single nucleotide variant ZNF711-Related X-linked Mental Retardation [RCV001166221]|not specified [RCV000194519] ChrX:85265168 [GRCh38]
ChrX:84520174 [GRCh37]
ChrX:Xq21.1
benign|likely benign|uncertain significance
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:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001330574.2(ZNF711):c.320A>G (p.Asp107Gly) single nucleotide variant not specified [RCV000192477] ChrX:85255499 [GRCh38]
ChrX:84510505 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001330574.2(ZNF711):c.1838G>T (p.Cys613Phe) single nucleotide variant not specified [RCV000194454] ChrX:85271242 [GRCh38]
ChrX:84526248 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
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 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:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [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
NM_021998.5(ZNF711):c.2072T>G (p.Leu691Arg) single nucleotide variant ZNF711-Related X-linked Mental Retardation [RCV000626248] ChrX:85271614 [GRCh38]
ChrX:84526620 [GRCh37]
ChrX:Xq21.1
uncertain significance
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 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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001330574.2(ZNF711):c.1468A>C (p.Lys490Gln) single nucleotide variant Inborn genetic diseases [RCV000622574] ChrX:85270872 [GRCh38]
ChrX:84525878 [GRCh37]
ChrX:Xq21.1
uncertain significance
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:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [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 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_001330574.2(ZNF711):c.*153A>G single nucleotide variant ZNF711-Related X-linked Mental Retardation [RCV000288641] ChrX:85271981 [GRCh38]
ChrX:84526987 [GRCh37]
ChrX:Xq21.1
benign
NM_001330574.2(ZNF711):c.*47A>G single nucleotide variant ZNF711-Related X-linked Mental Retardation [RCV000264481] ChrX:85271875 [GRCh38]
ChrX:84526881 [GRCh37]
ChrX:Xq21.1
benign|uncertain significance
NM_001330574.2(ZNF711):c.*188A>G single nucleotide variant ZNF711-Related X-linked Mental Retardation [RCV000343640] ChrX:85272016 [GRCh38]
ChrX:84527022 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001330574.2(ZNF711):c.-473_-471GGC[10] microsatellite Non-syndromic X-linked intellectual disability [RCV000310561] ChrX:85244123..85244124 [GRCh38]
ChrX:84499129..84499130 [GRCh37]
ChrX:Xq21.1
benign
NM_001330574.2(ZNF711):c.-439dup duplication Non-syndromic X-linked intellectual disability [RCV000311550] ChrX:85244156..85244157 [GRCh38]
ChrX:84499162..84499163 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001330574.2(ZNF711):c.-316T>A single nucleotide variant ZNF711-Related X-linked Mental Retardation [RCV000276089] ChrX:85245992 [GRCh38]
ChrX:84500998 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001330574.2(ZNF711):c.-449delinsGGCGGCGGCG indel Non-syndromic X-linked intellectual disability [RCV000365062] ChrX:85244148 [GRCh38]
ChrX:84499154 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001330574.2(ZNF711):c.2106A>G (p.Thr702=) single nucleotide variant History of neurodevelopmental disorder [RCV000720953]|ZNF711-Related X-linked Mental Retardation [RCV000318436]|not provided [RCV000895705] ChrX:85271510 [GRCh38]
ChrX:84526516 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_001330574.2(ZNF711):c.-350G>T single nucleotide variant ZNF711-Related X-linked Mental Retardation [RCV000370931] ChrX:85245958 [GRCh38]
ChrX:84500964 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001330574.2(ZNF711):c.*118C>T single nucleotide variant ZNF711-Related X-linked Mental Retardation [RCV000324279] ChrX:85271946 [GRCh38]
ChrX:84526952 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001330574.2(ZNF711):c.*122G>T single nucleotide variant ZNF711-Related X-linked Mental Retardation [RCV000378422] ChrX:85271950 [GRCh38]
ChrX:84526956 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_001330574.2(ZNF711):c.2162C>T (p.Pro721Leu) single nucleotide variant ZNF711-Related X-linked Mental Retardation [RCV000377748] ChrX:85271566 [GRCh38]
ChrX:84526572 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001330574.2(ZNF711):c.*272G>A single nucleotide variant ZNF711-Related X-linked Mental Retardation [RCV000384273] ChrX:85272100 [GRCh38]
ChrX:84527106 [GRCh37]
ChrX:Xq21.1
benign
NM_001330574.2(ZNF711):c.*540T>C single nucleotide variant ZNF711-Related X-linked Mental Retardation [RCV000290198] ChrX:85272368 [GRCh38]
ChrX:84527374 [GRCh37]
ChrX:Xq21.1
likely benign|uncertain significance
NM_001330574.2(ZNF711):c.-473_-471GGC[9] microsatellite Non-syndromic X-linked intellectual disability [RCV000394531] ChrX:85244123..85244124 [GRCh38]
ChrX:84499129..84499130 [GRCh37]
ChrX:Xq21.1
likely benign
NM_001330574.2(ZNF711):c.*763G>A single nucleotide variant ZNF711-Related X-linked Mental Retardation [RCV000397594] ChrX:85272591 [GRCh38]
ChrX:84527597 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001330574.2(ZNF711):c.-449A>G single nucleotide variant ZNF711-Related X-linked Mental Retardation [RCV000398835] ChrX:85244148 [GRCh38]
ChrX:84499154 [GRCh37]
ChrX:Xq21.1
benign
NM_001330574.2(ZNF711):c.1368G>A (p.Met456Ile) single nucleotide variant ZNF711-Related X-linked Mental Retardation [RCV000263078] ChrX:85270772 [GRCh38]
ChrX:84525778 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_001330574.2(ZNF711):c.1873C>T (p.Arg625Cys) single nucleotide variant not provided [RCV000489748] ChrX:85271277 [GRCh38]
ChrX:84526283 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_001330574.2(ZNF711):c.*1411G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000336262]|Premature ovarian failure 2b [RCV000323479]|ZNF711-Related X-linked Mental Retardation [RCV001168457] ChrX:85273239 [GRCh38]
ChrX:84528245 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_001330574.2(ZNF711):c.*632A>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000349795]|Premature ovarian failure 2b [RCV000358346]|ZNF711-Related X-linked Mental Retardation [RCV001168454] ChrX:85272460 [GRCh38]
ChrX:84527466 [GRCh37]
ChrX:Xq21.1
benign
NM_024921.4(POF1B):c.*1849G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000382782]|Premature ovarian failure 2b [RCV000402392] ChrX:85277572 [GRCh38]
ChrX:84532578 [GRCh37]
ChrX:Xq21.1
benign
NM_024921.4(POF1B):c.*1626G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000327426]|Premature ovarian failure 2b [RCV000265713] ChrX:85277795 [GRCh38]
ChrX:84532801 [GRCh37]
ChrX:Xq21.1
benign
NM_024921.4(POF1B):c.*1173C>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000292246]|Premature ovarian failure 2b [RCV000267025] ChrX:85278248 [GRCh38]
ChrX:84533254 [GRCh37]
ChrX:Xq21.1
likely benign
NM_001330574.2(ZNF711):c.*1260G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000314765]|Premature ovarian failure 2b [RCV000268292]|ZNF711-Related X-linked Mental Retardation [RCV001168456] ChrX:85273088 [GRCh38]
ChrX:84528094 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_024921.4(POF1B):c.*1808A>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000270019]|Premature ovarian failure 2b [RCV000301203] ChrX:85277613 [GRCh38]
ChrX:84532619 [GRCh37]
ChrX:Xq21.1
likely benign
NM_024921.4(POF1B):c.*1431A>C single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000384275]|Premature ovarian failure 2b [RCV000302162] ChrX:85277990 [GRCh38]
ChrX:84532996 [GRCh37]
ChrX:Xq21.1
benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001330574.2(ZNF711):c.97dup (p.Thr33fs) duplication ZNF711-Related X-linked Mental Retardation [RCV000678384]|not provided [RCV000523998] ChrX:85255275..85255276 [GRCh38]
ChrX:84510281..84510282 [GRCh37]
ChrX:Xq21.1
likely 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: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:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [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 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:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
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: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 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 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_021998.5(ZNF711):c.2054del (p.Phe685fs) deletion ZNF711-Related X-linked Mental Retardation [RCV000477669] ChrX:85271595 [GRCh38]
ChrX:84526601 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_001330574.2(ZNF711):c.731T>C (p.Ile244Thr) single nucleotide variant Intellectual disability [RCV000850219]|ZNF711-Related X-linked Mental Retardation [RCV000477705] ChrX:85264383 [GRCh38]
ChrX:84519389 [GRCh37]
ChrX:Xq21.1
pathogenic|likely pathogenic
NM_001330574.2(ZNF711):c.1351C>A (p.His451Asn) single nucleotide variant not provided [RCV000483109] ChrX:85270755 [GRCh38]
ChrX:84525761 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001330574.2(ZNF711):c.1630G>A (p.Val544Ile) single nucleotide variant not specified [RCV000503977] ChrX:85271034 [GRCh38]
ChrX:84526040 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
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 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 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
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 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
NM_001330574.2(ZNF711):c.2027G>A (p.Arg676His) single nucleotide variant Inborn genetic diseases [RCV000622704] ChrX:85271431 [GRCh38]
ChrX:84526437 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001330574.2(ZNF711):c.1337G>A (p.Arg446Lys) single nucleotide variant Inborn genetic diseases [RCV000624016] ChrX:85270741 [GRCh38]
ChrX:84525747 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001330574.2(ZNF711):c.80-11_80-8del microsatellite not specified [RCV000604808] ChrX:85255244..85255247 [GRCh38]
ChrX:84510250..84510253 [GRCh37]
ChrX:Xq21.1
likely benign
NM_001330574.2(ZNF711):c.1377dup (p.Tyr460fs) duplication ZNF711-Related X-linked Mental Retardation [RCV000585704] ChrX:85270774..85270775 [GRCh38]
ChrX:84525780..84525781 [GRCh37]
ChrX:Xq21.1
likely pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
NM_001330574.2(ZNF711):c.453A>C (p.Gly151=) single nucleotide variant History of neurodevelopmental disorder [RCV000721096]|not provided [RCV000916782] ChrX:85255632 [GRCh38]
ChrX:84510638 [GRCh37]
ChrX:Xq21.1
benign|likely 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(chrX:84444331-84563220)x3 copy number gain not provided [RCV000753635] ChrX:84444331..84563220 [GRCh37]
ChrX:Xq21.1
benign
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
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:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
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:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.(?_83372068)_(86924394_?)del deletion not provided [RCV001033923] ChrX:83372068..86924394 [GRCh37]
ChrX:Xq21.1-21.31
pathogenic
NC_000023.10:g.(?_82763333)_(86890775_?)del deletion not provided [RCV001033944] ChrX:82763333..86890775 [GRCh37]
ChrX:Xq21.1-21.31
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NC_000023.10:g.(?_83126460)_(86924394_?)del deletion not provided [RCV001032392] ChrX:83126460..86924394 [GRCh37]
ChrX:Xq21.1-21.31
pathogenic
NM_001330574.2(ZNF711):c.556A>G (p.Ile186Val) single nucleotide variant not provided [RCV000995981] ChrX:85255735 [GRCh38]
ChrX:84510741 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001330574.2(ZNF711):c.2110G>A (p.Asp704Asn) single nucleotide variant not provided [RCV000995982] ChrX:85271514 [GRCh38]
ChrX:84526520 [GRCh37]
ChrX:Xq21.1
uncertain significance
NC_000023.10:g.(?_83576897)_(86924394_?)del deletion not provided [RCV001033207] ChrX:83576897..86924394 [GRCh37]
ChrX:Xq21.1-21.31
pathogenic
NM_001330574.2(ZNF711):c.2331T>C (p.Tyr777=) single nucleotide variant not provided [RCV000896957] ChrX:85271735 [GRCh38]
ChrX:84526741 [GRCh37]
ChrX:Xq21.1
likely 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
GRCh37/hg19 Xq13.3-21.31(chrX:74667077-90312981)x1 copy number loss not provided [RCV000847338] ChrX:74667077..90312981 [GRCh37]
ChrX:Xq13.3-21.31
pathogenic
NM_001330574.2(ZNF711):c.*169C>T single nucleotide variant ZNF711-Related X-linked Mental Retardation [RCV001166736] ChrX:85271997 [GRCh38]
ChrX:84527003 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001330574.2(ZNF711):c.-297A>T single nucleotide variant ZNF711-Related X-linked Mental Retardation [RCV001169152] ChrX:85246011 [GRCh38]
ChrX:84501017 [GRCh37]
ChrX:Xq21.1
benign
NM_001330574.2(ZNF711):c.1773A>G (p.Gln591=) single nucleotide variant ZNF711-Related X-linked Mental Retardation [RCV001166224] ChrX:85271177 [GRCh38]
ChrX:84526183 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001330574.2(ZNF711):c.1926C>A (p.Asp642Glu) single nucleotide variant ZNF711-Related X-linked Mental Retardation [RCV001166225] ChrX:85271330 [GRCh38]
ChrX:84526336 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001330574.2(ZNF711):c.2109C>T (p.Ser703=) single nucleotide variant ZNF711-Related X-linked Mental Retardation [RCV001166735] ChrX:85271513 [GRCh38]
ChrX:84526519 [GRCh37]
ChrX:Xq21.1
benign
NM_001330574.2(ZNF711):c.*524C>T single nucleotide variant ZNF711-Related X-linked Mental Retardation [RCV001168453] ChrX:85272352 [GRCh38]
ChrX:84527358 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001330574.2(ZNF711):c.1613A>G (p.Asn538Ser) single nucleotide variant not provided [RCV001092041] ChrX:85271017 [GRCh38]
ChrX:84526023 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
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
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
NM_001330574.2(ZNF711):c.569ATG[5] (p.Asp195del) microsatellite ZNF711-Related X-linked Mental Retardation [RCV001196173] ChrX:85255747..85255749 [GRCh38]
ChrX:84510753..84510755 [GRCh37]
ChrX:Xq21.1
uncertain significance
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
NM_001330574.2(ZNF711):c.*965T>A single nucleotide variant ZNF711-Related X-linked Mental Retardation [RCV001168455] ChrX:85272793 [GRCh38]
ChrX:84527799 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001330574.2(ZNF711):c.1089T>C (p.Asp363=) single nucleotide variant not provided [RCV000931337] ChrX:85268328 [GRCh38]
ChrX:84523334 [GRCh37]
ChrX:Xq21.1
likely benign
NM_001330574.2(ZNF711):c.1073C>G (p.Ser358Cys) single nucleotide variant ZNF711-Related X-linked Mental Retardation [RCV001166222] ChrX:85268312 [GRCh38]
ChrX:84523318 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001330574.2(ZNF711):c.1465G>A (p.Asp489Asn) single nucleotide variant not specified [RCV001175026] ChrX:85270869 [GRCh38]
ChrX:84525875 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001330574.2(ZNF711):c.469A>G (p.Met157Val) single nucleotide variant not provided [RCV001092040] ChrX:85255648 [GRCh38]
ChrX:84510654 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001330574.2(ZNF711):c.445G>T (p.Val149Phe) single nucleotide variant not provided [RCV001092039] ChrX:85255624 [GRCh38]
ChrX:84510630 [GRCh37]
ChrX:Xq21.1
uncertain significance
NC_000023.10:g.(?_83372068)_(86890775_?)del deletion not provided [RCV001032728] ChrX:83372068..86890775 [GRCh37]
ChrX:Xq21.1-21.31
pathogenic
NC_000023.10:g.(?_82763333)_(86924394_?)del deletion not provided [RCV001033898] ChrX:82763333..86924394 [GRCh37]
ChrX:Xq21.1-21.31
pathogenic
NM_001330574.2(ZNF711):c.2173A>G (p.Lys725Glu) single nucleotide variant ZNF711-Related X-linked Mental Retardation [RCV001252980] ChrX:85271577 [GRCh38]
ChrX:84526583 [GRCh37]
ChrX:Xq21.1
uncertain significance
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
NM_001330574.2(ZNF711):c.1387A>T (p.Thr463Ser) single nucleotide variant Inborn genetic diseases [RCV001266793] ChrX:85270791 [GRCh38]
ChrX:84525797 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001330574.2(ZNF711):c.1068_1069del (p.Arg356fs) microsatellite ZNF711-Related X-linked Mental Retardation [RCV001329873] ChrX:85268305..85268306 [GRCh38]
ChrX:84523311..84523312 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_001330574.2(ZNF711):c.1595C>T (p.Ala532Val) single nucleotide variant not provided [RCV001338115] ChrX:85270999 [GRCh38]
ChrX:84526005 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001330574.2(ZNF711):c.42C>T (p.Asp14=) single nucleotide variant not provided [RCV001310740] ChrX:85247614 [GRCh38]
ChrX:84502620 [GRCh37]
ChrX:Xq21.1
likely benign
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001330574.2(ZNF711):c.1882G>A (p.Asp628Asn) single nucleotide variant ZNF711-Related X-linked Mental Retardation [RCV001329248] ChrX:85271286 [GRCh38]
ChrX:84526292 [GRCh37]
ChrX:Xq21.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13128 AgrOrtholog
COSMIC ZNF711 COSMIC
Ensembl Genes ENSG00000147180 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000276123 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000353922 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000362260 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000502839 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000276123 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000360700 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000373165 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000674551 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000147180 GTEx
HGNC ID HGNC:13128 ENTREZGENE
Human Proteome Map ZNF711 Human Proteome Map
InterPro Transcrp_activ_Zfx/Zfy-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot
  Znf_C2H2_type UniProtKB/Swiss-Prot
KEGG Report hsa:7552 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7552 ENTREZGENE
OMIM 300803 OMIM
  314990 OMIM
Pfam zf-C2H2 UniProtKB/Swiss-Prot
  Zfx_Zfy_act UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37702 PharmGKB
PROSITE ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot
SMART ZnF_C2H2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot
UniProt Q6PK66 ENTREZGENE, UniProtKB/TrEMBL
  Q9Y462 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B4DSV4 UniProtKB/Swiss-Prot
  Q6NX42 UniProtKB/Swiss-Prot
  Q9Y4J6 UniProtKB/Swiss-Prot