MBTPS2 (membrane bound transcription factor peptidase, site 2) - Rat Genome Database
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Gene: MBTPS2 (membrane bound transcription factor peptidase, site 2) Homo sapiens
Analyze
Symbol: MBTPS2
Name: membrane bound transcription factor peptidase, site 2
RGD ID: 1342985
HGNC Page HGNC
Description: Exhibits metalloendopeptidase activity. Involved in bone maturation; membrane protein intracellular domain proteolysis; and regulation of transcription, DNA-templated. Localizes to cytoplasm. Implicated in X-linked keratosis follicularis spinulosa decalvans; X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques; ichthyosis follicularis-alopecia-photophobia syndrome 1; and osteogenesis imperfecta type 19.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BRESEK; endopeptidase S2P; FLJ32174; IFAP; keratosis follicularis spinulosa decalvans; KFSD; KFSDX; membrane-bound transcription factor peptidase, site 2; membrane-bound transcription factor protease, site 2; membrane-bound transcription factor site-2 protease; OI19; OLMSX; S2P; site-2 protease; SREBPs intramembrane protease; sterol regulatory element-binding proteins intramembrane protease
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 EnsemblX21,839,617 - 21,885,423 (+)EnsemblGRCh38hg38GRCh38
GRCh38X21,839,617 - 21,885,423 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X21,857,656 - 21,916,427 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X21,767,675 - 21,810,794 (+)NCBINCBI36hg18NCBI36
Build 34X21,617,410 - 21,660,530NCBI
CeleraX25,979,352 - 26,025,249 (+)NCBI
Cytogenetic MapXp22.12NCBI
HuRefX19,598,870 - 19,644,630 (+)NCBIHuRef
CHM1_1X21,888,082 - 21,933,974 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Human Phenotype
Abnormal eyelash morphology  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal nasolacrimal system morphology  (IAGP)
Abnormal pelvis bone morphology  (IAGP)
Abnormal vertebral morphology  (IAGP)
Abnormality of dental enamel  (IAGP)
Abnormality of the gingiva  (IAGP)
Abnormality of the nail  (IAGP)
Abnormality of the ribs  (IAGP)
Abnormality of the tongue  (IAGP)
Absent eyebrow  (IAGP)
Absent eyelashes  (IAGP)
Absent septum pellucidum  (IAGP)
Aganglionic megacolon  (IAGP)
Agenesis of corpus callosum  (IAGP)
Alopecia  (IAGP)
Alopecia totalis  (IAGP)
Anhidrosis  (IAGP)
Ankylosis  (IAGP)
Astigmatism  (IAGP)
Biconcave vertebral bodies  (IAGP)
Blepharitis  (IAGP)
Blue sclerae  (IAGP)
Brain atrophy  (IAGP)
Camptodactyly of finger  (IAGP)
Carious teeth  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebral cortical hemiatrophy  (IAGP)
Cheilitis  (IAGP)
Choanal atresia  (IAGP)
Cleft palate  (IAGP)
Congenital onset  (IAGP)
Conjunctivitis  (IAGP)
Convex nasal ridge  (IAGP)
Corneal dystrophy  (IAGP)
Corneal erosion  (IAGP)
Corneal opacity  (IAGP)
Cryptorchidism  (IAGP)
Decreased testicular size  (IAGP)
Delayed skeletal maturation  (IAGP)
Dementia  (IAGP)
Developmental regression  (IAGP)
Dry skin  (IAGP)
Dystrophic fingernails  (IAGP)
Ectodermal dysplasia  (IAGP)
Ectrodactyly  (IAGP)
Ectropion  (IAGP)
Eczema  (IAGP)
Epidermal acanthosis  (IAGP)
Episcleritis  (IAGP)
Erythema  (IAGP)
Erythroderma  (IAGP)
Facial erythema  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Follicular hyperkeratosis  (IAGP)
Folliculitis  (IAGP)
Frontal bossing  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Heat intolerance  (IAGP)
Hemivertebrae  (IAGP)
Heterogeneous  (IAGP)
Hip dislocation  (IAGP)
Hydrocephalus  (IAGP)
Hydronephrosis  (IAGP)
Hydroureter  (IAGP)
Hyperconvex fingernails  (IAGP)
Hyperkeratosis  (IAGP)
Hypodontia  (IAGP)
Hypohidrosis  (IAGP)
Hypoplasia of the bladder  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplastic fingernail  (IAGP)
Ichthyosis  (IAGP)
Immunodeficiency  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Intrauterine growth retardation  (IAGP)
Iris coloboma  (IAGP)
Keratitis  (IAGP)
Keratosis pilaris  (IAGP)
Kyphosis  (IAGP)
Low-set ears  (IAGP)
Macrotia  (IAGP)
Melanoma  (IAGP)
Microcephaly  (IAGP)
Microphthalmia  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Muscular hypotonia  (IAGP)
Myopia  (IAGP)
Nail dysplasia  (IAGP)
Nail dystrophy  (IAGP)
Neonatal death  (IAGP)
Neoplasm of the lung  (IAGP)
Neoplasm of the skin  (IAGP)
Nystagmus  (IAGP)
Oligodactyly  (IAGP)
Oligohydramnios  (IAGP)
Olivopontocerebellar atrophy  (IAGP)
Omphalocele  (IAGP)
Opacification of the corneal stroma  (IAGP)
Optic nerve hypoplasia  (IAGP)
Osteolysis  (IAGP)
Osteopenia  (IAGP)
Palmoplantar hyperhidrosis  (IAGP)
Palmoplantar hyperkeratosis  (IAGP)
Palmoplantar keratoderma  (IAGP)
Papule  (IAGP)
Parakeratosis  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Perifollicular fibrosis  (IAGP)
Photophobia  (IAGP)
Plagiocephaly  (IAGP)
Platyspondyly  (IAGP)
Postaxial hand polydactyly  (IAGP)
Posterior blepharitis  (IAGP)
Protruding ear  (IAGP)
Recurrent bacterial infections  (IAGP)
Recurrent corneal erosions  (IAGP)
Recurrent fractures  (IAGP)
Recurrent respiratory infections  (IAGP)
Renal dysplasia  (IAGP)
Renal hypoplasia  (IAGP)
Rhizomelia  (IAGP)
Scaling skin  (IAGP)
Scarring alopecia of scalp  (IAGP)
Scleritis  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe short stature  (IAGP)
Short stature  (IAGP)
Skin fissure  (IAGP)
Skin ulcer  (IAGP)
Sparse and thin eyebrow  (IAGP)
Sparse eyelashes  (IAGP)
Sparse hair  (IAGP)
Specific learning disability  (IAGP)
Subcortical cerebral atrophy  (IAGP)
Subungual hyperkeratosis  (IAGP)
Thin eyebrow  (IAGP)
Thin fingernail  (IAGP)
Umbilical hernia  (IAGP)
Unilateral chest hypoplasia  (IAGP)
Unilateral renal agenesis  (IAGP)
Urticaria  (IAGP)
Uveitis  (IAGP)
Variable expressivity  (IAGP)
Ventriculomegaly  (IAGP)
Vertebral wedging  (IAGP)
Vesicoureteral reflux  (IAGP)
X-linked inheritance  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:9659902   PMID:9847074   PMID:10419520   PMID:10805775   PMID:11163209   PMID:11795864   PMID:11850408   PMID:12477932   PMID:14702039   PMID:15299016   PMID:15772651   PMID:18660489  
PMID:19361614   PMID:19689518   PMID:20672378   PMID:20854407   PMID:21315478   PMID:21426410   PMID:21873635   PMID:22816986   PMID:22931912   PMID:22934019   PMID:23316014   PMID:23571157  
PMID:26186194   PMID:27380894   PMID:28514442   PMID:28717930   PMID:29507755   PMID:29951998   PMID:30033366   PMID:30294811   PMID:30589367   PMID:31091453   PMID:32694731  


Genomics

Comparative Map Data
MBTPS2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX21,839,617 - 21,885,423 (+)EnsemblGRCh38hg38GRCh38
GRCh38X21,839,617 - 21,885,423 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X21,857,656 - 21,916,427 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X21,767,675 - 21,810,794 (+)NCBINCBI36hg18NCBI36
Build 34X21,617,410 - 21,660,530NCBI
CeleraX25,979,352 - 26,025,249 (+)NCBI
Cytogenetic MapXp22.12NCBI
HuRefX19,598,870 - 19,644,630 (+)NCBIHuRef
CHM1_1X21,888,082 - 21,933,974 (+)NCBICHM1_1
Mbtps2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X156,330,818 - 156,381,711 (-)NCBIGRCm39mm39
GRCm38X157,547,822 - 157,598,715 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX157,535,371 - 157,598,715 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X153,985,754 - 154,036,647 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X152,894,045 - 152,942,755 (-)NCBImm8
CeleraX140,799,978 - 140,850,843 (-)NCBICelera
Cytogenetic MapXF4NCBI
Mbtps2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0X40,258,933 - 40,309,047 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX40,258,493 - 40,310,563 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X40,569,195 - 40,619,334 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X58,708,065 - 58,757,022 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX38,039,020 - 38,086,670 (+)NCBICelera
Cytogenetic MapXq21NCBI
Mbtps2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555092,184,522 - 2,222,505 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555092,185,054 - 2,222,497 (+)NCBIChiLan1.0ChiLan1.0
MBTPS2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X21,825,780 - 21,871,381 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX21,825,780 - 21,883,550 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X14,470,268 - 14,529,854 (+)NCBIMhudiblu_PPA_v0panPan3
MBTPS2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 EnsemblX17,655,363 - 17,710,288 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1X17,655,295 - 17,718,960 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Mbtps2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049366242,464,152 - 2,510,984 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MBTPS2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1X18,013,360 - 18,054,250 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X19,216,635 - 19,252,134 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MBTPS2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X20,319,731 - 20,364,603 (+)NCBI
ChlSab1.1 EnsemblX20,319,807 - 20,361,847 (+)Ensembl
Mbtps2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248296,795,563 - 6,839,416 (+)NCBI

Position Markers
WI-17374  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X21,903,391 - 21,903,540UniSTSGRCh37
Build 36X21,813,312 - 21,813,461RGDNCBI36
CeleraX26,025,099 - 26,025,248RGD
Cytogenetic MapXp22.12-p22.11UniSTS
HuRefX19,644,480 - 19,644,629UniSTS
GeneMap99-GB4 RH MapX98.9UniSTS
Whitehead-RH MapX18.2UniSTS
NCBI RH MapX43.0UniSTS
DXS7577  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X21,902,441 - 21,902,550UniSTSGRCh37
Build 36X21,812,362 - 21,812,471RGDNCBI36
CeleraX26,024,149 - 26,024,258RGD
Cytogenetic MapXp22.12-p22.11UniSTS
HuRefX19,643,530 - 19,643,639UniSTS
DXS7480  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X21,902,381 - 21,902,566UniSTSGRCh37
Build 36X21,812,302 - 21,812,487RGDNCBI36
CeleraX26,024,089 - 26,024,274RGD
Cytogenetic MapXp22.12-p22.11UniSTS
HuRefX19,643,470 - 19,643,655UniSTS
Whitehead-YAC Contig MapX UniSTS
SGC30434  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X21,902,461 - 21,902,566UniSTSGRCh37
Build 36X21,812,382 - 21,812,487RGDNCBI36
CeleraX26,024,169 - 26,024,274RGD
Cytogenetic MapXp22.12-p22.11UniSTS
HuRefX19,643,550 - 19,643,655UniSTS
GeneMap99-GB4 RH MapX97.2UniSTS
Whitehead-RH MapX17.8UniSTS
NCBI RH MapX43.0UniSTS
A008R38  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X21,901,127 - 21,901,236UniSTSGRCh37
Build 36X21,811,048 - 21,811,157RGDNCBI36
CeleraX26,022,835 - 26,022,944RGD
Cytogenetic MapXp22.12-p22.11UniSTS
HuRefX19,642,216 - 19,642,325UniSTS
GeneMap99-GB4 RH MapX98.93UniSTS
NCBI RH MapX43.0UniSTS
DXS6998E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X21,902,393 - 21,902,470UniSTSGRCh37
Build 36X21,812,314 - 21,812,391RGDNCBI36
CeleraX26,024,101 - 26,024,178RGD
Cytogenetic MapXp22.12-p22.11UniSTS
HuRefX19,643,482 - 19,643,559UniSTS
GeneMap99-GB4 RH MapX97.2UniSTS
NCBI RH MapX43.0UniSTS
DXS8252  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X21,871,110 - 21,871,314UniSTSGRCh37
Build 36X21,781,031 - 21,781,235RGDNCBI36
CeleraX25,992,806 - 25,993,010RGD
Cytogenetic MapXp22.12-p22.11UniSTS
HuRefX19,612,157 - 19,612,361UniSTS
DXS8242  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X21,881,824 - 21,881,949UniSTSGRCh37
Build 36X21,791,745 - 21,791,870RGDNCBI36
CeleraX26,003,531 - 26,003,656RGD
Cytogenetic MapXp22.12-p22.11UniSTS
HuRefX19,622,822 - 19,622,947UniSTS
DXS7157  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X21,865,874 - 21,866,073UniSTSGRCh37
Build 36X21,775,795 - 21,775,994RGDNCBI36
CeleraX25,987,570 - 25,987,769RGD
Cytogenetic MapXp22.12-p22.11UniSTS
HuRefX19,607,089 - 19,607,288UniSTS
Whitehead-RH MapX16.7UniSTS
Whitehead-YAC Contig MapX UniSTS
NCBI RH MapX39.9UniSTS
DXS7674  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X21,894,270 - 21,894,329UniSTSGRCh37
Build 36X21,804,191 - 21,804,250RGDNCBI36
CeleraX26,015,978 - 26,016,037RGD
Cytogenetic MapXp22.12-p22.11UniSTS
HuRefX19,635,359 - 19,635,418UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
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Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3179
Count of miRNA genes:1218
Interacting mature miRNAs:1553
Transcripts:ENST00000365779, ENST00000379484, ENST00000465888
Prediction methods:Miranda, Pita, Pita,Targetscan, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system appendage entire extraembryonic component pharyngeal arch
High
Medium 122 16 89 60 207 62 119 57 157 118 224 265 11 1 1 3 2
Low 102 24 217 176 560 177 185 14 33 190 124 117 2 1 3
Below cutoff 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF019612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW204540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW664372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX489533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC338559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U72788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U73479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000365779   ⟹   ENSP00000368796
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,839,654 - 21,873,084 (+)Ensembl
RefSeq Acc Id: ENST00000379484   ⟹   ENSP00000368798
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,839,617 - 21,885,423 (+)Ensembl
RefSeq Acc Id: ENST00000465888
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,839,636 - 21,857,593 (+)Ensembl
RefSeq Acc Id: NM_015884   ⟹   NP_056968
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X21,839,617 - 21,885,423 (+)NCBI
GRCh37X21,857,656 - 21,916,427 (+)NCBI
Build 36X21,767,675 - 21,810,794 (+)NCBI Archive
HuRefX19,598,870 - 19,644,630 (+)ENTREZGENE
CHM1_1X21,888,082 - 21,933,974 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_056968   ⟸   NM_015884
- UniProtKB: O43462 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000368798   ⟸   ENST00000379484
RefSeq Acc Id: ENSP00000368796   ⟸   ENST00000365779
Protein Domains
Peptidase_M50

Promoters
RGD ID:6809028
Promoter ID:HG_KWN:66225
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000056026,   OTTHUMT00000056028,   UC004DAB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X21,767,384 - 21,767,884 (+)MPROMDB
RGD ID:13604910
Promoter ID:EPDNEW_H28639
Type:initiation region
Name:MBTPS2_1
Description:membrane bound transcription factor peptidase, site 2
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
GRCh38X21,839,629 - 21,839,689EPDNEW

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_015884.4(MBTPS2):c.1523A>G (p.Asn508Ser) single nucleotide variant Keratosis follicularis spinulosa decalvans, X-linked [RCV000022848]|not provided [RCV000254794] ChrX:21882618 [GRCh38]
ChrX:21900736 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_015884.4(MBTPS2):c.680A>T (p.His227Leu) single nucleotide variant IFAP syndrome with or without BRESHECK syndrome [RCV000012155] ChrX:21868476 [GRCh38]
ChrX:21886594 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_015884.4(MBTPS2):c.261G>A (p.Met87Ile) single nucleotide variant IFAP syndrome with or without BRESHECK syndrome [RCV000012156] ChrX:21845207 [GRCh38]
ChrX:21863325 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_015884.4(MBTPS2):c.1286G>A (p.Arg429His) single nucleotide variant IFAP syndrome with or without BRESHECK syndrome [RCV000012157]|not provided [RCV000081781] ChrX:21880921 [GRCh38]
ChrX:21899039 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_015884.4(MBTPS2):c.1424T>C (p.Phe475Ser) single nucleotide variant IFAP syndrome with or without BRESHECK syndrome [RCV000012158] ChrX:21882519 [GRCh38]
ChrX:21900637 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_015884.4(MBTPS2):c.677G>T (p.Trp226Leu) single nucleotide variant IFAP syndrome with or without BRESHECK syndrome [RCV000012159] ChrX:21868473 [GRCh38]
ChrX:21886591 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_015884.4(MBTPS2):c.671-9T>G single nucleotide variant IFAP syndrome with or without BRESHECK syndrome [RCV000114758] ChrX:21868458 [GRCh38]
ChrX:21886576 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_015884.4(MBTPS2):c.1391T>C (p.Phe464Ser) single nucleotide variant Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked [RCV000114759] ChrX:21882486 [GRCh38]
ChrX:21900604 [GRCh37]
ChrX:Xp22.12
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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-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 Xp22.33-11.22(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:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.3(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 Xp22.33-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 Xp22.33-11.21(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 Xp22.33-11.21(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 Xp22.33-22.11(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: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 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_015884.4(MBTPS2):c.1468A>G (p.Lys490Glu) single nucleotide variant not provided [RCV000081782] ChrX:21882563 [GRCh38]
ChrX:21900681 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_015884.4(MBTPS2):c.222A>G (p.Gln74=) single nucleotide variant not specified [RCV000081783] ChrX:21843316 [GRCh38]
ChrX:21861434 [GRCh37]
ChrX:Xp22.12
benign
NM_015884.4(MBTPS2):c.17_19TGG[2] (p.Val8_Val11del) microsatellite not provided [RCV000081784] ChrX:21839751..21839762 [GRCh38]
ChrX:21857869..21857880 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_015884.4(MBTPS2):c.472A>G (p.Thr158Ala) single nucleotide variant not provided [RCV000081785] ChrX:21851542 [GRCh38]
ChrX:21869660 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_015884.4(MBTPS2):c.706A>G (p.Ile236Val) single nucleotide variant not provided [RCV000081786] ChrX:21868502 [GRCh38]
ChrX:21886620 [GRCh37]
ChrX:Xp22.12
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 Xp22.33-11.22(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:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xp22.31-11.22(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 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 Xp22.2-22.11(chrX:15173626-23952585)x2 copy number gain See cases [RCV000134875] ChrX:15173626..23952585 [GRCh38]
ChrX:15191748..23970702 [GRCh37]
ChrX:15101669..23880623 [NCBI36]
ChrX:Xp22.2-22.11
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 Xp22.33-21.1(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 Xp22.33-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: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 Xp22.33-22.12(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: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 Xp22.33-11.23(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-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 Xp22.2-21.2(chrX:12254555-30410580)x1 copy number loss See cases [RCV000138069] ChrX:12254555..30410580 [GRCh38]
ChrX:12272674..30428697 [GRCh37]
ChrX:12182595..30338618 [NCBI36]
ChrX:Xp22.2-21.2
pathogenic|likely 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 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.4(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:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 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-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 Xp22.33-11.21(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 Xp22.33-21.1(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 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_015884.4(MBTPS2):c.1013A>T (p.His338Leu) single nucleotide variant Abnormality of neuronal migration [RCV000201401] ChrX:21878084 [GRCh38]
ChrX:21896202 [GRCh37]
ChrX:Xp22.12
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 Xp22.33-11.21(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
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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: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: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 Xp22.33-21.1(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-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_015884.4(MBTPS2):c.291G>A (p.Thr97=) single nucleotide variant not provided [RCV000487570] ChrX:21845237 [GRCh38]
ChrX:21863355 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_015884.4(MBTPS2):c.727C>T (p.Pro243Ser) single nucleotide variant not provided [RCV000335401] ChrX:21868523 [GRCh38]
ChrX:21886641 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_015884.4(MBTPS2):c.739T>G (p.Leu247Val) single nucleotide variant not provided [RCV000386100] ChrX:21868535 [GRCh38]
ChrX:21886653 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_015884.4(MBTPS2):c.661T>A (p.Phe221Ile) single nucleotide variant not provided [RCV000489505] ChrX:21853494 [GRCh38]
ChrX:21871612 [GRCh37]
ChrX:Xp22.12
likely pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_015884.4(MBTPS2):c.225-5G>C single nucleotide variant not provided [RCV000488082] ChrX:21845166 [GRCh38]
ChrX:21863284 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_015884.4(MBTPS2):c.348_365CTCTTCTTCCTCTTCCTC[1] (p.Ser131_Ser136del) microsatellite not specified [RCV000591837] ChrX:21845286..21845303 [GRCh38]
ChrX:21863404..21863421 [GRCh37]
ChrX:Xp22.12
likely benign
NM_015884.4(MBTPS2):c.290C>T (p.Thr97Met) single nucleotide variant Inborn genetic diseases [RCV000624223] ChrX:21845236 [GRCh38]
ChrX:21863354 [GRCh37]
ChrX:Xp22.12
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-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: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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_015884.4(MBTPS2):c.695C>A (p.Ala232Glu) single nucleotide variant not provided [RCV000417649] ChrX:21868491 [GRCh38]
ChrX:21886609 [GRCh37]
ChrX:Xp22.12
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_015884.4(MBTPS2):c.1523A>T (p.Asn508Ile) single nucleotide variant not provided [RCV000421935] ChrX:21882618 [GRCh38]
ChrX:21900736 [GRCh37]
ChrX:Xp22.12
likely 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 Xp22.12-22.11(chrX:21708594-22063592)x2 copy number gain See cases [RCV000512061] ChrX:21708594..22063592 [GRCh37]
ChrX:Xp22.12-22.11
uncertain significance
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
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
NM_015884.4(MBTPS2):c.1099G>A (p.Ala367Thr) single nucleotide variant not provided [RCV000498203] ChrX:21878530 [GRCh38]
ChrX:21896648 [GRCh37]
ChrX:Xp22.12
uncertain significance
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 Xp22.2-21.2(chrX:15290524-29747172)x2 copy number gain See cases [RCV000511443] ChrX:15290524..29747172 [GRCh37]
ChrX:Xp22.2-21.2
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 Xp22.12-22.11(chrX:21708594-22054641)x3 copy number gain See cases [RCV000511611] ChrX:21708594..22054641 [GRCh37]
ChrX:Xp22.12-22.11
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 Xp22.33-22.11(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
NM_015884.4(MBTPS2):c.529A>C (p.Ile177Leu) single nucleotide variant IFAP syndrome with or without BRESHECK syndrome [RCV000626122] ChrX:21851599 [GRCh38]
ChrX:21869717 [GRCh37]
ChrX:Xp22.12
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_015884.4(MBTPS2):c.1376A>G (p.Asn459Ser) single nucleotide variant Osteogenesis imperfecta, type 19 [RCV000675188] ChrX:21882471 [GRCh38]
ChrX:21900589 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_015884.4(MBTPS2):c.1515G>C (p.Leu505Phe) single nucleotide variant Osteogenesis imperfecta, type 19 [RCV000675189] ChrX:21882610 [GRCh38]
ChrX:21900728 [GRCh37]
ChrX:Xp22.12
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 Xp22.33-22.11(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 Xp22.31-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 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_015884.4(MBTPS2):c.375_380CTCTTC[1] (p.Ser135_Ser136del) microsatellite not provided [RCV000722421] ChrX:21845316..21845321 [GRCh38]
ChrX:21863434..21863439 [GRCh37]
ChrX:Xp22.12
uncertain significance
GRCh37/hg19 Xp22.12-22.11(chrX:20572692-21957308)x3 copy number gain not provided [RCV000753417] ChrX:20572692..21957308 [GRCh37]
ChrX:Xp22.12-22.11
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 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_015884.4(MBTPS2):c.307G>A (p.Ala103Thr) single nucleotide variant not provided [RCV000968429] ChrX:21845253 [GRCh38]
ChrX:21863371 [GRCh37]
ChrX:Xp22.12
benign
NM_015884.4(MBTPS2):c.408G>A (p.Ser136=) single nucleotide variant not provided [RCV000879027] ChrX:21845354 [GRCh38]
ChrX:21863472 [GRCh37]
ChrX:Xp22.12
benign
NM_015884.4(MBTPS2):c.846A>G (p.Leu282=) single nucleotide variant not provided [RCV000948513] ChrX:21869554 [GRCh38]
ChrX:21887672 [GRCh37]
ChrX:Xp22.12
benign
NM_015884.4(MBTPS2):c.1407A>G (p.Gln469=) single nucleotide variant not provided [RCV000968430] ChrX:21882502 [GRCh38]
ChrX:21900620 [GRCh37]
ChrX:Xp22.12
benign
NM_015884.4(MBTPS2):c.30G>C (p.Val10=) single nucleotide variant not provided [RCV000919738] ChrX:21839764 [GRCh38]
ChrX:21857882 [GRCh37]
ChrX:Xp22.12
benign
NM_015884.4(MBTPS2):c.639G>T (p.Ser213=) single nucleotide variant not provided [RCV000907941] ChrX:21853472 [GRCh38]
ChrX:21871590 [GRCh37]
ChrX:Xp22.12
likely benign
NM_015884.4(MBTPS2):c.612G>A (p.Leu204=) single nucleotide variant not provided [RCV000977817] ChrX:21853445 [GRCh38]
ChrX:21871563 [GRCh37]
ChrX:Xp22.12
benign
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
NM_015884.4(MBTPS2):c.639G>A (p.Ser213=) single nucleotide variant not provided [RCV000915620] ChrX:21853472 [GRCh38]
ChrX:21871590 [GRCh37]
ChrX:Xp22.12
benign
GRCh37/hg19 Xp22.2-22.11(chrX:15330714-21915234)x2 copy number gain not provided [RCV000846517] ChrX:15330714..21915234 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.12-22.11(chrX:21881463-21908677)x3 copy number gain not provided [RCV000848215] ChrX:21881463..21908677 [GRCh37]
ChrX:Xp22.12-22.11
uncertain significance
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849766] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849768] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
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 Xp22.12-21.1(chrX:20925922-35511818)x1 copy number loss not provided [RCV000847678] ChrX:20925922..35511818 [GRCh37]
ChrX:Xp22.12-21.1
pathogenic
NM_015884.4(MBTPS2):c.485C>T (p.Thr162Met) single nucleotide variant not provided [RCV000936295] ChrX:21851555 [GRCh38]
ChrX:21869673 [GRCh37]
ChrX:Xp22.12
benign
NM_015884.4(MBTPS2):c.119A>C (p.Asn40Thr) single nucleotide variant IFAP syndrome with or without BRESHECK syndrome [RCV001197532] ChrX:21843213 [GRCh38]
ChrX:21861331 [GRCh37]
ChrX:Xp22.12
uncertain significance
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-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-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_015884.4(MBTPS2):c.1520C>T (p.Ala507Val) single nucleotide variant IFAP syndrome with or without BRESHECK syndrome [RCV001197570] ChrX:21882615 [GRCh38]
ChrX:21900733 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_015884.4(MBTPS2):c.741G>A (p.Leu247=) single nucleotide variant not provided [RCV000892602] ChrX:21868537 [GRCh38]
ChrX:21886655 [GRCh37]
ChrX:Xp22.12
likely benign
NM_015884.4(MBTPS2):c.459C>T (p.Pro153=) single nucleotide variant not provided [RCV000926149] ChrX:21851529 [GRCh38]
ChrX:21869647 [GRCh37]
ChrX:Xp22.12
benign
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_015884.4(MBTPS2):c.546A>G (p.Glu182=) single nucleotide variant not provided [RCV000934108] ChrX:21853379 [GRCh38]
ChrX:21871497 [GRCh37]
ChrX:Xp22.12
likely benign
NM_015884.4(MBTPS2):c.218A>G (p.Tyr73Cys) single nucleotide variant not provided [RCV000912080] ChrX:21843312 [GRCh38]
ChrX:21861430 [GRCh37]
ChrX:Xp22.12
benign
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

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15455 AgrOrtholog
COSMIC MBTPS2 COSMIC
Ensembl Genes ENSG00000012174 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000368796 UniProtKB/TrEMBL
  ENSP00000368798 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000365779 UniProtKB/TrEMBL
  ENST00000379484 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000012174 GTEx
HGNC ID HGNC:15455 ENTREZGENE
Human Proteome Map MBTPS2 Human Proteome Map
InterPro MBTPS2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51360 UniProtKB/Swiss-Prot
NCBI Gene 51360 ENTREZGENE
OMIM 300294 OMIM
  300918 OMIM
  301014 OMIM
  308205 OMIM
  308800 OMIM
PANTHER PTHR13325 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Peptidase_M50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30672 PharmGKB
PRINTS SREBPS2PTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ZINC_PROTEASE UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50156 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B9ZVQ3_HUMAN UniProtKB/TrEMBL
  MBTP2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q9UM70 UniProtKB/Swiss-Prot
  Q9UMD3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 MBTPS2  membrane bound transcription factor peptidase, site 2    membrane-bound transcription factor peptidase, site 2  Symbol and/or name change 5135510 APPROVED
2011-08-17 MBTPS2  membrane-bound transcription factor peptidase, site 2  MBTPS2  membrane-bound transcription factor peptidase, site 2  Symbol and/or name change 5135510 APPROVED