HCCS (holocytochrome c synthase) - Rat Genome Database

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Gene: HCCS (holocytochrome c synthase) Homo sapiens
Analyze
Symbol: HCCS
Name: holocytochrome c synthase
RGD ID: 1352684
HGNC Page HGNC
Description: Exhibits heme binding activity and holocytochrome-c synthase activity. Involved in cytochrome c-heme linkage. Localizes to membrane and mitochondrion. Implicated in linear skin defects with multiple congenital anomalies 1 and microphthalmia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CCHL; cytochrome c heme-lyase; cytochrome c-type heme lyase; DKFZp779I1858; holocytochrome c-type synthase; holocytochrome-c synthetase; LSDMCA1; MCOPS7; microphthalamia with linear skin defects; microphthalmia with linear skin defects; MLS
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 EnsemblX11,111,301 - 11,123,086 (+)EnsemblGRCh38hg38GRCh38
GRCh38X11,111,332 - 11,123,086 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X11,129,452 - 11,141,206 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X11,039,373 - 11,051,122 (+)NCBINCBI36hg18NCBI36
Build 34X10,889,137 - 10,899,655NCBI
CeleraX15,256,857 - 15,268,657 (+)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX8,910,155 - 8,921,955 (+)NCBIHuRef
CHM1_1X11,159,827 - 11,171,630 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cardiac septum morphology  (IAGP)
Abnormal eyelash morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal fallopian tube morphology  (IAGP)
Abnormal nasolacrimal system morphology  (IAGP)
Abnormal rectum morphology  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormality of dental enamel  (IAGP)
Abnormality of metabolism/homeostasis  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the anus  (IAGP)
Abnormality of the nail  (IAGP)
Absent septum pellucidum  (IAGP)
Agenesis of corpus callosum  (IAGP)
Ambiguous genitalia  (IAGP)
Amblyopia  (IAGP)
Anal atresia  (IAGP)
Anophthalmia  (IAGP)
Anteriorly placed anus  (IAGP)
Aphasia  (IAGP)
Arrhythmia  (IAGP)
Asymmetric, linear skin defects  (IAGP)
Atrial septal defect  (IAGP)
Blindness  (IAGP)
Cataract  (IAGP)
Chordee  (IAGP)
Chorioretinal dysplasia  (IAGP)
Cleft earlobe  (IAGP)
Clitoral hypertrophy  (IAGP)
Colpocephaly  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Dermal atrophy  (IAGP)
Dilated cardiomyopathy  (IAGP)
Dysphasia  (IAGP)
Echolalia  (IAGP)
Epispadias  (IAGP)
Erythema  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Functional motor deficit  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Histiocytoid cardiomyopathy  (IAGP)
Hydrocephalus  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of the uterus  (IAGP)
Hypospadias  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, progressive  (IAGP)
Iris coloboma  (IAGP)
Male pseudohermaphroditism  (IAGP)
Mandibular aplasia  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Microphthalmia  (IAGP)
Midface retrusion  (IAGP)
Mitral regurgitation  (IAGP)
Mitral valve prolapse  (IAGP)
Mutism  (IAGP)
Overriding aorta  (IAGP)
Ovotestis  (IAGP)
Pigmentary retinopathy  (IAGP)
Posterior embryotoxon  (IAGP)
Respiratory distress  (IAGP)
Respiratory failure  (IAGP)
Retinal dysplasia  (IAGP)
Retinal dystrophy  (IAGP)
Retrognathia  (IAGP)
Sacral dimple  (IAGP)
Schizophrenia  (IAGP)
Sclerocornea  (IAGP)
Seizure  (IAGP)
Severe short stature  (IAGP)
Short stature  (IAGP)
Specific learning disability  (IAGP)
Status epilepticus  (IAGP)
Tricuspid regurgitation  (IAGP)
Tricuspid valve prolapse  (IAGP)
Ventricular septal defect  (IAGP)
Visual loss  (IAGP)
Vitritis  (IAGP)
Wide nasal bridge  (IAGP)
Wide nose  (IAGP)
X-linked dominant inheritance  (IAGP)
References

Additional References at PubMed
PMID:8364577   PMID:8661044   PMID:9674913   PMID:11827457   PMID:12444108   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16263763   PMID:16344560   PMID:17207965   PMID:17893649  
PMID:18029348   PMID:19322201   PMID:19734545   PMID:20301533   PMID:20301552   PMID:20301767   PMID:21873635   PMID:23150584   PMID:23401659   PMID:24344204   PMID:25054239   PMID:25170082  
PMID:25544563   PMID:26186194   PMID:26344197   PMID:26496610   PMID:27173435   PMID:27387500   PMID:27499296   PMID:28514442   PMID:28515276   PMID:28617588   PMID:28712289   PMID:28775156  
PMID:29053956   PMID:29507755   PMID:29568061   PMID:30033366   PMID:31536960   PMID:31617661   PMID:31723608   PMID:31995728   PMID:32296183   PMID:32694731   PMID:32814053   PMID:32877691  


Genomics

Comparative Map Data
HCCS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX11,111,301 - 11,123,086 (+)EnsemblGRCh38hg38GRCh38
GRCh38X11,111,332 - 11,123,086 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X11,129,452 - 11,141,206 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X11,039,373 - 11,051,122 (+)NCBINCBI36hg18NCBI36
Build 34X10,889,137 - 10,899,655NCBI
CeleraX15,256,857 - 15,268,657 (+)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX8,910,155 - 8,921,955 (+)NCBIHuRef
CHM1_1X11,159,827 - 11,171,630 (+)NCBICHM1_1
Hccs
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X168,094,526 - 168,103,370 (-)NCBIGRCm39mm39
GRCm39 EnsemblX168,033,189 - 168,103,368 (-)Ensembl
GRCm38X169,311,530 - 169,320,374 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX169,250,193 - 169,320,372 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X165,749,462 - 165,758,275 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X164,655,640 - 164,664,385 (-)NCBImm8
CeleraX152,476,573 - 152,485,230 (-)NCBICelera
Cytogenetic MapXF5NCBI
Hccs
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X24,932,943 - 24,942,376 (+)NCBI
Rnor_6.0 EnsemblX26,294,066 - 26,303,461 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X26,294,028 - 26,303,461 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X26,698,830 - 26,708,253 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X45,617,395 - 45,626,790 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX25,352,867 - 25,362,262 (+)NCBICelera
Cytogenetic MapXq13NCBI
LOC102006165
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555442,103,815 - 2,117,838 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555442,105,486 - 2,117,830 (-)NCBIChiLan1.0ChiLan1.0
LOC100982890
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X11,032,260 - 11,044,055 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX11,031,638 - 11,044,055 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X3,741,316 - 3,753,115 (+)NCBIMhudiblu_PPA_v0panPan3
HCCS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X7,686,007 - 7,697,244 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX7,686,035 - 7,699,811 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX7,642,846 - 7,654,033 (+)NCBI
ROS_Cfam_1.0X7,639,242 - 7,650,429 (+)NCBI
UMICH_Zoey_3.1X7,622,544 - 7,633,731 (+)NCBI
UNSW_CanFamBas_1.0X7,658,794 - 7,669,977 (+)NCBI
UU_Cfam_GSD_1.0X7,653,282 - 7,664,531 (+)NCBI
LOC101978619
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X1,024,984 - 1,038,534 (+)NCBI
SpeTri2.0NW_0049364701,025,017 - 1,038,534 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HCCS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX7,882,723 - 7,896,747 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X7,882,609 - 7,894,489 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X8,444,630 - 8,456,468 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HCCS
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X9,569,858 - 9,581,569 (+)NCBI
ChlSab1.1 EnsemblX9,569,884 - 9,582,149 (+)Ensembl
LOC101700661
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248823,221,145 - 3,233,040 (-)NCBI

Position Markers
RH91114  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,140,968 - 11,141,087UniSTSGRCh37
Build 36X11,050,889 - 11,051,008RGDNCBI36
CeleraX15,268,419 - 15,268,538RGD
Cytogenetic MapXp22.3UniSTS
HuRefX8,921,717 - 8,921,836UniSTS
GeneMap99-GB4 RH MapX83.98UniSTS
SHGC-78640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,133,425 - 11,133,701UniSTSGRCh37
Build 36X11,043,346 - 11,043,622RGDNCBI36
CeleraX15,260,876 - 15,261,152RGD
Cytogenetic MapXp22.3UniSTS
HuRefX8,914,174 - 8,914,450UniSTS
TNG Radiation Hybrid MapX2306.0UniSTS
RH71227  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,139,747 - 11,139,902UniSTSGRCh37
Build 36X11,049,668 - 11,049,823RGDNCBI36
CeleraX15,267,198 - 15,267,353RGD
Cytogenetic MapXp22.3UniSTS
HuRefX8,920,496 - 8,920,651UniSTS
GeneMap99-GB4 RH MapX85.38UniSTS
NCBI RH MapX10.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:675
Count of miRNA genes:437
Interacting mature miRNAs:474
Transcripts:ENST00000321143, ENST00000380762, ENST00000380763
Prediction methods:Miranda, 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 2184 2152 1248 381 1380 250 4203 1934 1950 362 1193 1459 147 1 1108 2672 5 2
Low 255 839 478 243 571 215 153 263 1784 57 267 154 28 96 116 1
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000321143   ⟹   ENSP00000326579
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,111,301 - 11,123,078 (+)Ensembl
RefSeq Acc Id: ENST00000380762   ⟹   ENSP00000370139
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,111,332 - 11,123,086 (+)Ensembl
RefSeq Acc Id: ENST00000380763   ⟹   ENSP00000370140
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,111,342 - 11,121,879 (+)Ensembl
RefSeq Acc Id: NM_001122608   ⟹   NP_001116080
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X11,111,332 - 11,123,086 (+)NCBI
GRCh37X11,129,406 - 11,141,206 (+)ENTREZGENE
HuRefX8,910,155 - 8,921,955 (+)ENTREZGENE
CHM1_1X11,159,827 - 11,171,630 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001171991   ⟹   NP_001165462
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X11,111,332 - 11,123,086 (+)NCBI
GRCh37X11,129,406 - 11,141,206 (+)ENTREZGENE
HuRefX8,910,155 - 8,921,955 (+)ENTREZGENE
CHM1_1X11,159,827 - 11,171,630 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005333   ⟹   NP_005324
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X11,111,332 - 11,123,086 (+)NCBI
GRCh37X11,129,406 - 11,141,206 (+)ENTREZGENE
Build 36X11,039,373 - 11,051,122 (+)NCBI Archive
HuRefX8,910,155 - 8,921,955 (+)ENTREZGENE
CHM1_1X11,159,827 - 11,171,630 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452368   ⟹   XP_024308136
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X11,111,344 - 11,123,078 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005324   ⟸   NM_005333
- UniProtKB: P53701 (UniProtKB/Swiss-Prot),   A0A024RBY9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001116080   ⟸   NM_001122608
- UniProtKB: P53701 (UniProtKB/Swiss-Prot),   A0A024RBY9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001165462   ⟸   NM_001171991
- UniProtKB: P53701 (UniProtKB/Swiss-Prot),   A0A024RBY9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024308136   ⟸   XM_024452368
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000326579   ⟸   ENST00000321143
RefSeq Acc Id: ENSP00000370139   ⟸   ENST00000380762
RefSeq Acc Id: ENSP00000370140   ⟸   ENST00000380763

Promoters
RGD ID:6809195
Promoter ID:HG_KWN:65987
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001122608,   NM_001171991,   NM_005333,   OTTHUMT00000055745,   UC004CUI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X11,038,451 - 11,039,867 (-)MPROMDB
RGD ID:13604726
Promoter ID:EPDNEW_H28547
Type:initiation region
Name:HCCS_1
Description:holocytochrome c synthase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X11,111,332 - 11,111,392EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005333.5(HCCS):c.475G>A (p.Glu159Lys) single nucleotide variant Linear skin defects with multiple congenital anomalies 1 [RCV000020630] ChrX:11118574 [GRCh38]
ChrX:11136694 [GRCh37]
ChrX:Xp22.2
pathogenic
HCCS, 8.6-KB DEL deletion Linear skin defects with multiple congenital anomalies 1 [RCV000012435] ChrX:Xp22 pathogenic
NM_005333.5(HCCS):c.589C>T (p.Arg197Ter) single nucleotide variant Linear skin defects with multiple congenital anomalies 1 [RCV000020631] ChrX:11120974 [GRCh38]
ChrX:11139094 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_005333.5(HCCS):c.649C>T (p.Arg217Cys) single nucleotide variant Linear skin defects with multiple congenital anomalies 1 [RCV000020632] ChrX:11121652 [GRCh38]
ChrX:11139772 [GRCh37]
ChrX:Xp22.2
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 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.2(chrX:11038216-11190005)x3 copy number gain See cases [RCV000051184] ChrX:11038216..11190005 [GRCh38]
ChrX:11056336..11208125 [GRCh37]
ChrX:10966257..11118046 [NCBI36]
ChrX:Xp22.2
uncertain significance
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 Xp22.33-22.2(chrX:10679-11240163)x1 copy number loss See cases [RCV000051034] ChrX:10679..11240163 [GRCh38]
ChrX:60679..11258283 [GRCh37]
ChrX:679..11168204 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:6837101-13719231)x3 copy number gain See cases [RCV000052360] ChrX:6837101..13719231 [GRCh38]
ChrX:6755142..13737350 [GRCh37]
ChrX:6765142..13647271 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:7992018-14435892)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052361]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052361]|See cases [RCV000052361] ChrX:7992018..14435892 [GRCh38]
ChrX:7960059..14454014 [GRCh37]
ChrX:7920059..14363935 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9038047-16646589)x2 copy number gain See cases [RCV000052362] ChrX:9038047..16646589 [GRCh38]
ChrX:9006088..16664712 [GRCh37]
ChrX:8966088..16574633 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.2(chrX:11104475-11121622)x3 copy number gain See cases [RCV000052364] ChrX:11104475..11121622 [GRCh38]
ChrX:11122595..11139742 [GRCh37]
ChrX:11032516..11049663 [NCBI36]
ChrX:Xp22.2
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
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 Xp22.31-22.2(chrX:9540020-13128124)x1 copy number loss See cases [RCV000053057] ChrX:9540020..13128124 [GRCh38]
ChrX:9508060..13146243 [GRCh37]
ChrX:9468060..13056164 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX: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 Xp22.33-22.2(chrX:3057092-13615172)x1 copy number loss See cases [RCV000053026] ChrX:3057092..13615172 [GRCh38]
ChrX:2975133..13633291 [GRCh37]
ChrX:2985133..13543212 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
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: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 Xp22.33-22.2(chrX:10679-11803947)x1 copy number loss See cases [RCV000052968] ChrX:10679..11803947 [GRCh38]
ChrX:60679..11822066 [GRCh37]
ChrX:679..11731987 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_005333.5(HCCS):c.521C>T (p.Ala174Val) single nucleotide variant not provided [RCV000081288] ChrX:11118620 [GRCh38]
ChrX:11136740 [GRCh37]
ChrX:Xp22.2
conflicting interpretations of pathogenicity|uncertain significance
NM_005333.5(HCCS):c.215C>T (p.Ala72Val) single nucleotide variant History of neurodevelopmental disorder [RCV000720939]|not specified [RCV000117210] ChrX:11114949 [GRCh38]
ChrX:11133069 [GRCh37]
ChrX:Xp22.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_005333.5(HCCS):c.521+7A>G single nucleotide variant not provided [RCV000901972]|not specified [RCV000117211] ChrX:11118627 [GRCh38]
ChrX:11136747 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_005333.5(HCCS):c.5G>A (p.Gly2Asp) single nucleotide variant Intellectual disability [RCV001252505]|not provided [RCV000117212]|not specified [RCV000299954] ChrX:11112065 [GRCh38]
ChrX:11130185 [GRCh37]
ChrX:Xp22.2
benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
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 Xp22.33-22.2(chrX:4082541-12772302)x2 copy number gain See cases [RCV000135636] ChrX:4082541..12772302 [GRCh38]
ChrX:4000582..12790421 [GRCh37]
ChrX:4010582..12700342 [NCBI36]
ChrX:Xp22.33-22.2
likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.2(chrX:11111956-11413717)x2 copy number gain See cases [RCV000135605] ChrX:11111956..11413717 [GRCh38]
ChrX:11130076..11431837 [GRCh37]
ChrX:11039997..11341758 [NCBI36]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:2936461-17287323)x2 copy number gain See cases [RCV000135895] ChrX:2936461..17287323 [GRCh38]
ChrX:2854502..17305446 [GRCh37]
ChrX:2864502..17215367 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX: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 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 Xp22.33-22.2(chrX:10679-16187419)x1 copy number loss See cases [RCV000137252] ChrX:10679..16187419 [GRCh38]
ChrX:60679..16205542 [GRCh37]
ChrX:679..16115463 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
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 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.2(chrX:11071625-11718694)x3 copy number gain See cases [RCV000138002] ChrX:11071625..11718694 [GRCh38]
ChrX:11089745..11736814 [GRCh37]
ChrX:10999666..11646735 [NCBI36]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.31-22.2(chrX:9239101-16721153)x1 copy number loss See cases [RCV000137753] ChrX:9239101..16721153 [GRCh38]
ChrX:9207141..16739276 [GRCh37]
ChrX:9167141..16649197 [NCBI36]
ChrX:Xp22.31-22.2
uncertain significance
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 Xp22.33-22.2(chrX:253124-12931344)x1 copy number loss See cases [RCV000138680] ChrX:253124..12931344 [GRCh38]
ChrX:169791..12949463 [GRCh37]
ChrX:109791..12859384 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.2(chrX:11108228-11121175)x3 copy number gain See cases [RCV000140558] ChrX:11108228..11121175 [GRCh38]
ChrX:11126348..11139295 [GRCh37]
ChrX:11036269..11049216 [NCBI36]
ChrX:Xp22.2
likely pathogenic
GRCh38/hg38 Xp22.2(chrX:11106727-11718694)x3 copy number gain See cases [RCV000139913] ChrX:11106727..11718694 [GRCh38]
ChrX:11124847..11736814 [GRCh37]
ChrX:11034768..11646735 [NCBI36]
ChrX:Xp22.2
likely benign
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 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.2(chrX:11095773-11240163)x2 copy number gain See cases [RCV000142451] ChrX:11095773..11240163 [GRCh38]
ChrX:11113893..11258283 [GRCh37]
ChrX:11023814..11168204 [NCBI36]
ChrX:Xp22.2
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 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:251879-16967290)x1 copy number loss See cases [RCV000142053] ChrX:251879..16967290 [GRCh38]
ChrX:168546..16985413 [GRCh37]
ChrX:108546..16895334 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.2(chrX:10544684-11145505)x2 copy number gain See cases [RCV000143592] ChrX:10544684..11145505 [GRCh38]
ChrX:10512724..11163625 [GRCh37]
ChrX:10472724..11073546 [NCBI36]
ChrX:Xp22.2
uncertain significance
NM_005333.5(HCCS):c.216G>C (p.Ala72=) single nucleotide variant History of neurodevelopmental disorder [RCV000721029]|not provided [RCV000952267]|not specified [RCV000153345] ChrX:11114950 [GRCh38]
ChrX:11133070 [GRCh37]
ChrX:Xp22.2
benign|likely benign
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
NM_005333.5(HCCS):c.95T>C (p.Met32Thr) single nucleotide variant not provided [RCV000175802] ChrX:11112155 [GRCh38]
ChrX:11130275 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005333.5(HCCS):c.199C>A (p.Pro67Thr) single nucleotide variant Linear skin defects with multiple congenital anomalies 1 [RCV000626178] ChrX:11114933 [GRCh38]
ChrX:11133053 [GRCh37]
ChrX:Xp22.2
likely pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:71267-12032064)x1 copy number loss See cases [RCV000240338] ChrX:71267..12032064 [GRCh37]
ChrX:Xp22.33-22.2
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_005333.5(HCCS):c.308_309insAGT (p.Val103dup) insertion Linear skin defects with multiple congenital anomalies 1 [RCV001269290] ChrX:11117320..11117321 [GRCh38]
ChrX:11135440..11135441 [GRCh37]
ChrX:Xp22.2
likely pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
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
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 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
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
NM_005333.5(HCCS):c.94A>T (p.Met32Leu) single nucleotide variant not specified [RCV000499573] ChrX:11112154 [GRCh38]
ChrX:11130274 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.2(chrX:10810471-11339263)x3 copy number gain See cases [RCV000511422] ChrX:10810471..11339263 [GRCh37]
ChrX:Xp22.2
likely 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:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_005333.5(HCCS):c.161C>T (p.Pro54Leu) single nucleotide variant not provided [RCV000656298] ChrX:11114895 [GRCh38]
ChrX:11133015 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
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 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:168546-16404364)x1 copy number loss not provided [RCV000684181] ChrX:168546..16404364 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.2(chrX:11091133-11291610)x2 copy number gain not provided [RCV000684272] ChrX:11091133..11291610 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
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 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 Xp22.33-22.13(chrX:168546-18601364)x1 copy number loss not provided [RCV000684182] ChrX:168546..18601364 [GRCh37]
ChrX:Xp22.33-22.13
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 Xp22.2(chrX:10989343-11572991)x3 copy number gain not provided [RCV000753380] ChrX:10989343..11572991 [GRCh37]
ChrX:Xp22.2
benign
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
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_005333.5(HCCS):c.175C>T (p.Arg59Cys) single nucleotide variant not provided [RCV000945859] ChrX:11114909 [GRCh38]
ChrX:11133029 [GRCh37]
ChrX:Xp22.2
benign
NM_005333.5(HCCS):c.387A>C (p.Ala129=) single nucleotide variant not provided [RCV000899344] ChrX:11117401 [GRCh38]
ChrX:11135521 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005333.5(HCCS):c.540A>G (p.Pro180=) single nucleotide variant not provided [RCV000923684] ChrX:11120925 [GRCh38]
ChrX:11139045 [GRCh37]
ChrX:Xp22.2
likely benign
NM_005333.5(HCCS):c.697G>A (p.Glu233Lys) single nucleotide variant not provided [RCV000945776] ChrX:11121700 [GRCh38]
ChrX:11139820 [GRCh37]
ChrX:Xp22.2
benign
NM_005333.5(HCCS):c.549C>A (p.Ile183=) single nucleotide variant not provided [RCV000946366] ChrX:11120934 [GRCh38]
ChrX:11139054 [GRCh37]
ChrX:Xp22.2
benign
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:2703632-14129100)x2 copy number gain not provided [RCV000847649] ChrX:2703632..14129100 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.2(chrX:11091134-11291611)x2 copy number gain not provided [RCV000847203] ChrX:11091134..11291611 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1 copy number loss not provided [RCV001007200] ChrX:168546..17502124 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005333.5(HCCS):c.189C>T (p.Tyr63=) single nucleotide variant not provided [RCV000893012] ChrX:11114923 [GRCh38]
ChrX:11133043 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 copy number gain not provided [RCV001007235] ChrX:1240318..20986848 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.2(chrX:10960556-11144778)x2 copy number gain not provided [RCV001260007] ChrX:10960556..11144778 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2(chrX:10578932-11326337)x2 copy number gain See cases [RCV001264398] ChrX:10578932..11326337 [GRCh37]
ChrX:Xp22.2
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 Xp22.2(chrX:10478359-15357092)x3 copy number gain not provided [RCV001259461] ChrX:10478359..15357092 [GRCh37]
ChrX:Xp22.2
likely 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
NM_005333.5(HCCS):c.283G>C (p.Asp95His) single nucleotide variant not provided [RCV001341237] ChrX:11117297 [GRCh38]
ChrX:11135417 [GRCh37]
ChrX:Xp22.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4837 AgrOrtholog
COSMIC HCCS COSMIC
Ensembl Genes ENSG00000004961 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000326579 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000370139 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000370140 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000321143 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000380762 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000380763 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000004961 GTEx
HGNC ID HGNC:4837 ENTREZGENE
Human Proteome Map HCCS Human Proteome Map
InterPro Cyt_C/C1_haem_lyase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3052 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3052 ENTREZGENE
OMIM 300056 OMIM
  309801 OMIM
PANTHER PTHR12743 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cyto_heme_lyase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29214 PharmGKB
PROSITE CYTO_HEME_LYASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CYTO_HEME_LYASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RBY9 ENTREZGENE, UniProtKB/TrEMBL
  CCHL_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B3KUS1 UniProtKB/Swiss-Prot
  Q502X8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 HCCS  holocytochrome c synthase  MLS  microphthalamia with linear skin defects  Data Merged 737654 PROVISIONAL
2011-07-27 HCCS  holocytochrome c synthase  HCCS  holocytochrome c synthase (cytochrome c heme-lyase)  Symbol and/or name change 5135510 APPROVED