ZNF674 (zinc finger protein 674) - Rat Genome Database

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Gene: ZNF674 (zinc finger protein 674) Homo sapiens
Analyze
Symbol: ZNF674
Name: zinc finger protein 674
RGD ID: 1602785
HGNC Page HGNC
Description: Predicted to have DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II and positive regulation of apoptotic process. Predicted to localize to chromatin. Implicated in non-syndromic X-linked intellectual disability 92.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DKFZp686H0940; mental retardation, X-linked 92; MRX92; zinc finger family member 674; ZNF673B
RGD Orthologs
Mouse
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: Z74696.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX46,497,727 - 46,545,457 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX46,497,725 - 46,545,457 (-)EnsemblGRCh38hg38GRCh38
GRCh38X46,497,725 - 46,545,466 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X46,357,160 - 46,404,856 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X46,243,490 - 46,289,820 (-)NCBINCBI36hg18NCBI36
CeleraX50,549,004 - 50,596,734 (-)NCBI
Cytogenetic MapXp11.3NCBI
HuRefX44,070,196 - 44,117,151 (-)NCBIHuRef
CHM1_1X46,389,297 - 46,437,039 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:11181995   PMID:16344560   PMID:16385466   PMID:21873635   PMID:22126752   PMID:30021884  


Genomics

Comparative Map Data
ZNF674
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX46,497,727 - 46,545,457 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX46,497,725 - 46,545,457 (-)EnsemblGRCh38hg38GRCh38
GRCh38X46,497,725 - 46,545,466 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X46,357,160 - 46,404,856 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X46,243,490 - 46,289,820 (-)NCBINCBI36hg18NCBI36
CeleraX50,549,004 - 50,596,734 (-)NCBI
Cytogenetic MapXp11.3NCBI
HuRefX44,070,196 - 44,117,151 (-)NCBIHuRef
CHM1_1X46,389,297 - 46,437,039 (-)NCBICHM1_1
Zfp819
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39743,256,559 - 43,267,703 (+)NCBIGRCm39mm39
GRCm39 Ensembl743,256,593 - 43,267,709 (+)Ensembl
GRCm38743,607,135 - 43,618,279 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl743,607,169 - 43,618,285 (+)EnsemblGRCm38mm10GRCm38
MGSCv37750,862,539 - 50,873,649 (+)NCBIGRCm37mm9NCBIm37
MGSCv36743,475,267 - 43,486,321 (+)NCBImm8
Celera739,071,267 - 39,082,376 (+)NCBICelera
Cytogenetic Map7B3NCBI
ZNF674
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X46,799,224 - 46,846,082 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX46,799,224 - 46,846,082 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X38,935,585 - 38,983,728 (-)NCBIMhudiblu_PPA_v0panPan3
ZNF674
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X40,146,143 - 40,179,963 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX40,122,425 - 40,153,968 (+)NCBICanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX18,312,935 - 18,316,338 (+)NCBI
Dog10K_Boxer_TashaX18,329,445 - 18,340,770 (+)NCBI
ROS_Cfam_1.0X40,280,697 - 40,313,898 (-)NCBI
UMICH_Zoey_3.1X40,263,524 - 40,303,118 (-)NCBI
UNSW_CanFamBas_1.0X40,257,022 - 40,290,166 (-)NCBI
UU_Cfam_GSD_1.0X40,343,231 - 40,382,854 (-)NCBI
Znf674
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X32,529,841 - 32,532,008 (-)NCBI
SpeTri2.0NW_00493650212,370,517 - 12,372,855 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZNF674
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1X41,090,146 - 41,118,627 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X45,932,252 - 45,961,282 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ZNF674
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X43,722,275 - 43,753,367 (-)NCBI
Znf674
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248873,271,453 - 3,277,212 (-)NCBI

Position Markers
D11S2977  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic MapXp11.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1770
Count of miRNA genes:821
Interacting mature miRNAs:930
Transcripts:ENST00000414387, ENST00000453909, ENST00000518708, ENST00000518795, ENST00000521626, ENST00000522017, ENST00000523374
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
Medium 2 1 14 1 1
Low 2416 2345 1698 604 1534 446 4151 1830 3567 402 1437 1603 173 1 1187 2591 6 2
Below cutoff 23 645 28 20 414 19 205 366 166 17 9 9 1 17 197

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001039891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001146291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001190417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK295054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL022165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW173662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY971607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ417100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA195605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC317540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000414387   ⟹   ENSP00000428248
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX46,499,437 - 46,544,611 (-)Ensembl
RefSeq Acc Id: ENST00000453909
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX46,527,723 - 46,529,668 (-)Ensembl
RefSeq Acc Id: ENST00000518708   ⟹   ENSP00000429646
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX46,525,378 - 46,545,424 (-)Ensembl
RefSeq Acc Id: ENST00000518795
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX46,501,302 - 46,523,618 (-)Ensembl
RefSeq Acc Id: ENST00000521626
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX46,522,993 - 46,545,420 (-)Ensembl
RefSeq Acc Id: ENST00000522017
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX46,523,000 - 46,545,457 (-)Ensembl
RefSeq Acc Id: ENST00000523374   ⟹   ENSP00000429148
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX46,497,727 - 46,545,441 (-)Ensembl
RefSeq Acc Id: ENST00000683375   ⟹   ENSP00000506769
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX46,497,725 - 46,545,421 (-)Ensembl
RefSeq Acc Id: NM_001039891   ⟹   NP_001034980
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X46,497,725 - 46,545,421 (-)NCBI
GRCh37X46,357,160 - 46,404,892 (-)RGD
Build 36X46,243,490 - 46,289,820 (-)NCBI Archive
CeleraX50,549,004 - 50,596,734 (-)RGD
HuRefX44,070,196 - 44,117,151 (-)RGD
CHM1_1X46,389,297 - 46,437,039 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001146291   ⟹   NP_001139763
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X46,497,725 - 46,545,421 (-)NCBI
GRCh37X46,357,160 - 46,404,892 (-)RGD
CeleraX50,549,004 - 50,596,734 (-)RGD
HuRefX44,070,196 - 44,117,151 (-)RGD
CHM1_1X46,389,297 - 46,437,039 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001190417   ⟹   NP_001177346
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X46,497,725 - 46,545,421 (-)NCBI
GRCh37X46,357,160 - 46,404,892 (-)RGD
CeleraX50,549,004 - 50,596,734 (-)RGD
HuRefX44,070,196 - 44,117,151 (-)RGD
CHM1_1X46,389,297 - 46,437,039 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543941   ⟹   XP_011542243
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X46,499,376 - 46,545,454 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543943   ⟹   XP_011542245
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X46,499,376 - 46,545,465 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543944   ⟹   XP_011542246
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X46,499,376 - 46,540,714 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543945   ⟹   XP_011542247
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X46,499,376 - 46,528,418 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029728   ⟹   XP_016885217
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X46,499,376 - 46,545,420 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029729   ⟹   XP_016885218
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X46,499,376 - 46,545,457 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029730   ⟹   XP_016885219
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X46,499,290 - 46,545,454 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029731   ⟹   XP_016885220
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X46,499,376 - 46,528,433 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029732   ⟹   XP_016885221
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X46,499,376 - 46,545,420 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029733   ⟹   XP_016885222
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X46,499,376 - 46,545,466 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001034980   ⟸   NM_001039891
- Peptide Label: isoform 1
- UniProtKB: Q2M3X9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001139763   ⟸   NM_001146291
- Peptide Label: isoform 2
- UniProtKB: Q2M3X9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001177346   ⟸   NM_001190417
- Peptide Label: isoform 3
- UniProtKB: Q2M3X9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011542245   ⟸   XM_011543943
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011542243   ⟸   XM_011543941
- Peptide Label: isoform X1
- UniProtKB: Q2M3X9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011542246   ⟸   XM_011543944
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011542247   ⟸   XM_011543945
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016885219   ⟸   XM_017029730
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016885222   ⟸   XM_017029733
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016885218   ⟸   XM_017029729
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016885221   ⟸   XM_017029732
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016885217   ⟸   XM_017029728
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016885220   ⟸   XM_017029731
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000429646   ⟸   ENST00000518708
RefSeq Acc Id: ENSP00000428248   ⟸   ENST00000414387
RefSeq Acc Id: ENSP00000429148   ⟸   ENST00000523374
RefSeq Acc Id: ENSP00000506769   ⟸   ENST00000683375
Protein Domains
KRAB

Promoters
RGD ID:6809443
Promoter ID:HG_KWN:66562
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001039891,   NM_001146291,   OTTHUMT00000056363,   UC010NHM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X46,289,686 - 46,290,186 (-)MPROMDB
RGD ID:13605118
Promoter ID:EPDNEW_H28743
Type:initiation region
Name:ZNF674_2
Description:zinc finger protein 674
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28745  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X46,545,405 - 46,545,465EPDNEW
RGD ID:13605122
Promoter ID:EPDNEW_H28745
Type:multiple initiation site
Name:ZNF674_1
Description:zinc finger protein 674
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28743  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X46,545,680 - 46,545,740EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_001039891.3(ZNF674):c.352G>T (p.Glu118Ter) single nucleotide variant not provided [RCV000088657] ChrX:46501237 [GRCh38]
ChrX:46360672 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
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: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: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:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 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 Xp22.33-11.23(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: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 Xp22.33-11.21(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 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.3(chrX:46156693-46636156)x3 copy number gain See cases [RCV000054179] ChrX:46156693..46636156 [GRCh38]
ChrX:46016128..46495591 [GRCh37]
ChrX:45901072..46380535 [NCBI36]
ChrX:Xp11.3
uncertain significance
GRCh38/hg38 Xp11.3(chrX:46184889-46582592)x2 copy number gain See cases [RCV000054180] ChrX:46184889..46582592 [GRCh38]
ChrX:46044324..46442027 [GRCh37]
ChrX:45929268..46326971 [NCBI36]
ChrX:Xp11.3
uncertain significance
GRCh38/hg38 Xp11.3(chrX:46508077-46548482)x3 copy number gain See cases [RCV000054182] ChrX:46508077..46548482 [GRCh38]
ChrX:46367512..46407917 [GRCh37]
ChrX:46252456..46292861 [NCBI36]
ChrX:Xp11.3
uncertain significance
GRCh38/hg38 Xp11.3(chrX:46514093-46548482)x3 copy number gain See cases [RCV000054183] ChrX:46514093..46548482 [GRCh38]
ChrX:46373528..46407917 [GRCh37]
ChrX:46258472..46292861 [NCBI36]
ChrX:Xp11.3
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_001190417.2(ZNF674):c.692A>G (p.Lys231Arg) single nucleotide variant History of neurodevelopmental disorder [RCV000720984]|not specified [RCV000079385] ChrX:46500882 [GRCh38]
ChrX:46360317 [GRCh37]
ChrX:Xp11.3
benign|likely benign|uncertain significance
NM_001190417.2(ZNF674):c.884G>A (p.Arg295Gln) single nucleotide variant History of neurodevelopmental disorder [RCV000721071]|not provided [RCV000906657]|not specified [RCV000079386] ChrX:46500690 [GRCh38]
ChrX:46360125 [GRCh37]
ChrX:Xp11.3
benign
NM_001039891.3(ZNF674):c.1125T>G (p.His375Gln) single nucleotide variant not specified [RCV000118957] ChrX:46500464 [GRCh38]
ChrX:46359899 [GRCh37]
ChrX:Xp11.3
benign
NM_001039891.3(ZNF674):c.1295A>G (p.His432Arg) single nucleotide variant not specified [RCV000118958] ChrX:46500294 [GRCh38]
ChrX:46359729 [GRCh37]
ChrX:Xp11.3
benign
NM_001039891.3(ZNF674):c.1028C>T (p.Thr343Met) single nucleotide variant History of neurodevelopmental disorder [RCV000720934]|not specified [RCV000118959] ChrX:46500561 [GRCh38]
ChrX:46359996 [GRCh37]
ChrX:Xp11.3
benign|likely benign
NM_001039891.3(ZNF674):c.1217T>C (p.Ile406Thr) single nucleotide variant not specified [RCV000118960] ChrX:46500372 [GRCh38]
ChrX:46359807 [GRCh37]
ChrX:Xp11.3
benign
NM_001039891.3(ZNF674):c.16-7G>A single nucleotide variant not provided [RCV000118961] ChrX:46528916 [GRCh38]
ChrX:46388351 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001039891.3(ZNF674):c.601C>T (p.Arg201Ter) single nucleotide variant not provided [RCV000118962]|not specified [RCV000238839] ChrX:46500988 [GRCh38]
ChrX:46360423 [GRCh37]
ChrX:Xp11.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
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)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.(?_43479884)_(46741003_?)del deletion Kabuki syndrome 2 [RCV000172943] ChrX:43479884..46741003 [GRCh37]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(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-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 Xp22.33-11.21(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 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:43361870-50931794)x3 copy number gain See cases [RCV000134956] ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX: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-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-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-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 Xp22.33-11.1(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-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 Xp11.3(chrX:46464096-47419599)x2 copy number gain See cases [RCV000139661] ChrX:46464096..47419599 [GRCh38]
ChrX:46323531..47278998 [GRCh37]
ChrX:46208475..47163942 [NCBI36]
ChrX:Xp11.3
uncertain significance
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 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 Xp11.3(chrX:46532588-46568441)x3 copy number gain See cases [RCV000141886] ChrX:46532588..46568441 [GRCh38]
ChrX:46392023..46427876 [GRCh37]
ChrX:46276967..46312820 [NCBI36]
ChrX:Xp11.3
uncertain significance
GRCh38/hg38 Xp11.3(chrX:46466633-46683440)x2 copy number gain See cases [RCV000141890] ChrX:46466633..46683440 [GRCh38]
ChrX:46326068..46542875 [GRCh37]
ChrX:46211012..46427819 [NCBI36]
ChrX:Xp11.3
uncertain significance
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(chrX:46186273-46637760)x2 copy number gain See cases [RCV000141563] ChrX:46186273..46637760 [GRCh38]
ChrX:46045708..46497195 [GRCh37]
ChrX:45930652..46382139 [NCBI36]
ChrX:Xp11.3
uncertain significance
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-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-11.22(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 Xp11.3(chrX:46234280-46867463)x3 copy number gain See cases [RCV000142172] ChrX:46234280..46867463 [GRCh38]
ChrX:46093715..46726898 [GRCh37]
ChrX:45978659..46611842 [NCBI36]
ChrX:Xp11.3
likely benign|uncertain significance
GRCh38/hg38 Xp11.3-11.23(chrX:44632305-47607180)x2 copy number gain See cases [RCV000143089] ChrX:44632305..47607180 [GRCh38]
ChrX:44491551..47466579 [GRCh37]
ChrX:44376495..47351523 [NCBI36]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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: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 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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
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
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
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
NM_001039891.3(ZNF674):c.986_987CA[2] (p.His330_Ile331insTer) microsatellite not specified [RCV000222000] ChrX:46500598..46500599 [GRCh38]
ChrX:46360033..46360034 [GRCh37]
ChrX:Xp11.3
likely benign
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
GRCh37/hg19 Xp11.3-11.23(chrX:46366112-46407917)x2 copy number gain See cases [RCV000239972] ChrX:46366112..46407917 [GRCh37]
ChrX:Xp11.3-11.23
uncertain significance
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
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: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 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001039891.3(ZNF674):c.*1562A>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000304524] ChrX:46498281 [GRCh38]
ChrX:46357716 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001039891.3(ZNF674):c.*689T>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000276643] ChrX:46499154 [GRCh38]
ChrX:46358589 [GRCh37]
ChrX:Xp11.3
benign
NM_001039891.3(ZNF674):c.*1710G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000391070] ChrX:46498133 [GRCh38]
ChrX:46357568 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001190417.2(ZNF674):c.*1120_*1121del deletion Non-syndromic X-linked intellectual disability [RCV000355908] ChrX:46498722..46498723 [GRCh38]
ChrX:46358157..46358158 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001039891.3(ZNF674):c.*769C>T single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000371144] ChrX:46499074 [GRCh38]
ChrX:46358509 [GRCh37]
ChrX:Xp11.3
likely benign
NM_001039891.3(ZNF674):c.-141+15G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000285009] ChrX:46545356 [GRCh38]
ChrX:46404791 [GRCh37]
ChrX:Xp11.3
benign
NM_001039891.3(ZNF674):c.-101A>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000379357] ChrX:46544572 [GRCh38]
ChrX:46404007 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001039891.3(ZNF674):c.425G>T (p.Arg142Ile) single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000288551] ChrX:46501164 [GRCh38]
ChrX:46360599 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001039891.3(ZNF674):c.*467A>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000331773] ChrX:46499376 [GRCh38]
ChrX:46358811 [GRCh37]
ChrX:Xp11.3
benign
NM_001039891.3(ZNF674):c.*1975G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000384543] ChrX:46497868 [GRCh38]
ChrX:46357303 [GRCh37]
ChrX:Xp11.3
benign
NM_001039891.3(ZNF674):c.1693A>C (p.Lys565Gln) single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000386332] ChrX:46499896 [GRCh38]
ChrX:46359331 [GRCh37]
ChrX:Xp11.3
likely benign
NM_001039891.3(ZNF674):c.*1926_*1927GT[4] microsatellite Non-syndromic X-linked intellectual disability [RCV000290177] ChrX:46497908..46497909 [GRCh38]
ChrX:46357343..46357344 [GRCh37]
ChrX:Xp11.3
benign
NM_001039891.3(ZNF674):c.-149G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000392867] ChrX:46545379 [GRCh38]
ChrX:46404814 [GRCh37]
ChrX:Xp11.3
benign
NM_001039891.3(ZNF674):c.-149G>C single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000339839] ChrX:46545379 [GRCh38]
ChrX:46404814 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_001039891.3(ZNF674):c.*1284C>T single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000340659] ChrX:46498559 [GRCh38]
ChrX:46357994 [GRCh37]
ChrX:Xp11.3
benign
NM_001039891.3(ZNF674):c.*1121A>T single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000261177] ChrX:46498722 [GRCh38]
ChrX:46358157 [GRCh37]
ChrX:Xp11.3
benign
NM_001039891.3(ZNF674):c.*866G>C single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000297778] ChrX:46498977 [GRCh38]
ChrX:46358412 [GRCh37]
ChrX:Xp11.3
likely benign
NM_001039891.3(ZNF674):c.74T>G (p.Leu25Arg) single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000343537] ChrX:46528851 [GRCh38]
ChrX:46388286 [GRCh37]
ChrX:Xp11.3
likely benign
NM_001039891.3(ZNF674):c.*1722G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000344319] ChrX:46498121 [GRCh38]
ChrX:46357556 [GRCh37]
ChrX:Xp11.3
likely benign
NM_001039891.3(ZNF674):c.*1161G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000301213] ChrX:46498682 [GRCh38]
ChrX:46358117 [GRCh37]
ChrX:Xp11.3
benign
NM_001039891.3(ZNF674):c.*1232C>T single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000405524] ChrX:46498611 [GRCh38]
ChrX:46358046 [GRCh37]
ChrX:Xp11.3
likely benign
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_001039891.2(ZNF674):c.*2120A>C single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000297434] ChrX:46497723 [GRCh38]
ChrX:46357158 [GRCh37]
ChrX:Xp11.3
benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-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
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: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 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 Xp22.33-11.22(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: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 Xp11.3-11.23(chrX:46366112-46407858)x2 copy number gain See cases [RCV000447226] ChrX:46366112..46407858 [GRCh37]
ChrX:Xp11.3-11.23
uncertain significance
GRCh37/hg19 Xp11.3-11.23(chrX:46029114-46504089)x2 copy number gain See cases [RCV000447392] ChrX:46029114..46504089 [GRCh37]
ChrX:Xp11.3-11.23
uncertain significance
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 Xp11.3(chrX:45772028-46388643)x2 copy number gain See cases [RCV000445662] ChrX:45772028..46388643 [GRCh37]
ChrX:Xp11.3
uncertain significance
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 Xp22.33-11.1(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:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
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-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 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 Xp11.4-11.23(chrX:41150139-46528262)x1 copy number loss See cases [RCV000511364] ChrX:41150139..46528262 [GRCh37]
ChrX:Xp11.4-11.23
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 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 Xp11.3-11.23(chrX:45888817-46542875)x3 copy number gain See cases [RCV000511255] ChrX:45888817..46542875 [GRCh37]
ChrX:Xp11.3-11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
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
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:46029114-46504089)x2 copy number gain not provided [RCV000684327] ChrX:46029114..46504089 [GRCh37]
ChrX:Xp11.3-11.23
uncertain significance
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 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
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 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
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NC_000023.10:g.(?_45605561)_(46952346_?)del deletion not provided [RCV001031576] ChrX:45605561..46952346 [GRCh37]
ChrX:Xp11.3-11.23
pathogenic
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
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 Xp11.3-11.23(chrX:46371061-46408859)x2 copy number gain not provided [RCV000848858] ChrX:46371061..46408859 [GRCh37]
ChrX:Xp11.3-11.23
uncertain significance
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
GRCh37/hg19 Xp11.3-11.23(chrX:46371128-46408674)x3 copy number gain not provided [RCV000847498] ChrX:46371128..46408674 [GRCh37]
ChrX:Xp11.3-11.23
uncertain significance
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 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 Xp11.3-11.23(chrX:46205228-46617253)x3 copy number gain not provided [RCV000845597] ChrX:46205228..46617253 [GRCh37]
ChrX:Xp11.3-11.23
uncertain significance
GRCh37/hg19 Xp11.3-11.23(chrX:46371061-46408674)x3 copy number gain not provided [RCV000847481] ChrX:46371061..46408674 [GRCh37]
ChrX:Xp11.3-11.23
uncertain significance
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:46331758-46999539)x2 copy number gain not provided [RCV001007299] ChrX:46331758..46999539 [GRCh37]
ChrX:Xp11.3-11.23
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
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

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17625 AgrOrtholog
COSMIC ZNF674 COSMIC
Ensembl Genes ENSG00000251192 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000428248 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000429148 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000429646 UniProtKB/TrEMBL
Ensembl Transcript ENST00000414387 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000518708 UniProtKB/TrEMBL
  ENST00000523374 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000251192 GTEx
HGNC ID HGNC:17625 ENTREZGENE
Human Proteome Map ZNF674 Human Proteome Map
InterPro KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KRAB_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot
  Znf_C2H2_type UniProtKB/Swiss-Prot
KEGG Report hsa:641339 UniProtKB/Swiss-Prot
NCBI Gene 641339 ENTREZGENE
OMIM 300573 OMIM
  300851 OMIM
Pfam KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C2H2 UniProtKB/Swiss-Prot
PharmGKB PA142670475 PharmGKB
PROSITE KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot
SMART KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_C2H2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF109640 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57667 UniProtKB/Swiss-Prot
UniProt E5RHV3_HUMAN UniProtKB/TrEMBL
  Q2M3X9 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B4DHE2 UniProtKB/Swiss-Prot
  E9PHQ4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-09-01 ZNF674  zinc finger protein 674  ZNF674  zinc finger protein 674  Symbol and/or name change 5135510 APPROVED
2011-07-27 ZNF674  zinc finger protein 674  ZNF674  zinc finger family member 674  Symbol and/or name change 5135510 APPROVED