TRPS1 (transcriptional repressor GATA binding 1) - Rat Genome Database

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Gene: TRPS1 (transcriptional repressor GATA binding 1) Homo sapiens
Analyze
Symbol: TRPS1
Name: transcriptional repressor GATA binding 1
RGD ID: 1323571
HGNC Page HGNC
Description: Exhibits DNA-binding transcription repressor activity, RNA polymerase II-specific; RNA polymerase II transcription regulatory region sequence-specific DNA binding activity; and protein domain specific binding activity. Involved in negative regulation of transcription by RNA polymerase II and skeletal system development. Localizes to chromatin; nucleoplasm; and protein-containing complex. Implicated in osteochondrodysplasia; trichorhinophalangeal syndrome type I; and trichorhinophalangeal syndrome type III.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: GC79; LGCR; MGC134928; tricho-rhino-phalangeal syndrome type I protein; trichorhinophalangeal syndrome I; zinc finger protein GC79; zinc finger transcription factor Trps1
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 Ensembl8115,408,496 - 115,809,673 (-)EnsemblGRCh38hg38GRCh38
GRCh388115,408,496 - 115,668,975 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378116,420,724 - 116,681,202 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368116,489,900 - 116,750,402 (-)NCBINCBI36hg18NCBI36
Build 348116,489,899 - 116,750,429NCBI
Celera8112,607,772 - 112,867,949 (-)NCBI
Cytogenetic Map8q23.3NCBI
HuRef8111,746,115 - 111,962,229 (-)NCBIHuRef
CHM1_18116,461,345 - 116,721,886 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal palate morphology  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of the nervous system  (IAGP)
Abnormally low-pitched voice  (IAGP)
Accelerated bone age after puberty  (IAGP)
Aplasia/Hypoplasia of the mandible  (IAGP)
Arthralgia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Avascular necrosis of the capital femoral epiphysis  (IAGP)
Bilateral single transverse palmar creases  (IAGP)
Bone pain  (IAGP)
Brachydactyly  (IAGP)
Bulbous nose  (IAGP)
Camptodactyly of finger  (IAGP)
Carious teeth  (IAGP)
Chin with horizontal crease  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Concave nail  (IAGP)
Conductive hearing impairment  (IAGP)
Cone-shaped epiphyses of the middle phalanges of the hand  (IAGP)
Cone-shaped epiphyses of the phalanges of the hand  (IAGP)
Cone-shaped epiphyses of the proximal phalanges of the hand  (IAGP)
Cone-shaped epiphysis  (IAGP)
Coxa magna  (IAGP)
Craniosynostosis  (IAGP)
Deep philtrum  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed skeletal maturation  (IAGP)
Dental crowding  (IAGP)
Dental malocclusion  (IAGP)
Fine hair  (IAGP)
Flat capital femoral epiphysis  (IAGP)
Fragile nails  (IAGP)
Frontal bossing  (IAGP)
Generalized hypotonia  (IAGP)
Genu valgum  (IAGP)
High palate  (IAGP)
High pitched voice  (IAGP)
Hip dysplasia  (IAGP)
Hyperextensible skin  (IAGP)
Hyperlordosis  (IAGP)
Hypotonia  (IAGP)
Increased number of teeth  (IAGP)
Infantile muscular hypotonia  (IAGP)
Intellectual disability  (IAGP)
Ivory epiphyses of the distal phalanges of the hand  (IAGP)
Joint dislocation  (IAGP)
Joint hyperflexibility  (IAGP)
Leukonychia  (IAGP)
Long philtrum  (IAGP)
Long upper lip  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Macrotia  (IAGP)
Microcephaly  (IAGP)
Microdontia  (IAGP)
Micrognathia  (IAGP)
Mitral valve prolapse  (IAGP)
Multiple long-bone exostoses  (IAGP)
Narrow palate  (IAGP)
Osteoarthritis  (IAGP)
Osteopenia  (IAGP)
Patchy alopecia  (IAGP)
Pear-shaped nose  (IAGP)
Pectus carinatum  (IAGP)
Pes planus  (IAGP)
Proportionate short stature  (IAGP)
Protruding ear  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent urinary tract infections  (IAGP)
Redundant skin  (IAGP)
Scapular winging  (IAGP)
Scoliosis  (IAGP)
Short distal phalanx of finger  (IAGP)
Short finger  (IAGP)
Short foot  (IAGP)
Short metacarpal  (IAGP)
Short metatarsal  (IAGP)
Short palm  (IAGP)
Short phalanx of finger  (IAGP)
Short stature  (IAGP)
Shortening of all phalanges of fingers  (IAGP)
Slow-growing hair  (IAGP)
Smooth philtrum  (IAGP)
Sparse and thin eyebrow  (IAGP)
Sparse eyelashes  (IAGP)
Sparse hair  (IAGP)
Sparse lateral eyebrow  (IAGP)
Sparse scalp hair  (IAGP)
Swelling of proximal interphalangeal joints  (IAGP)
Talipes  (IAGP)
Thick eyebrow  (IAGP)
Thick nasal alae  (IAGP)
Thin eyebrow  (IAGP)
Thin nail  (IAGP)
Thin upper lip vermilion  (IAGP)
Triangular face  (IAGP)
Underdeveloped nasal alae  (IAGP)
Ventriculomegaly  (IAGP)
Vesicoureteral reflux  (IAGP)
Wide nasal bridge  (IAGP)
References

Additional References at PubMed
PMID:2373110   PMID:8530105   PMID:10647898   PMID:10974077   PMID:11112658   PMID:11359471   PMID:11773701   PMID:11807863   PMID:11950061   PMID:12477932   PMID:12620233   PMID:12885770  
PMID:14680804   PMID:14702039   PMID:15491138   PMID:16043716   PMID:16344560   PMID:16940173   PMID:17081983   PMID:17391059   PMID:17467349   PMID:17854380   PMID:18713754   PMID:18946009  
PMID:19274049   PMID:19389374   PMID:19610100   PMID:19913121   PMID:20177376   PMID:20360068   PMID:20379614   PMID:20394624   PMID:20628086   PMID:20634891   PMID:20635356   PMID:20677014  
PMID:20686565   PMID:21673316   PMID:21740822   PMID:21761336   PMID:21761348   PMID:21868360   PMID:21873635   PMID:22127049   PMID:22190034   PMID:22306695   PMID:22472876   PMID:22481165  
PMID:22699663   PMID:22911880   PMID:22990118   PMID:23293878   PMID:23403292   PMID:23572024   PMID:23602568   PMID:23726511   PMID:23729783   PMID:23762846   PMID:23772552   PMID:23835950  
PMID:23897914   PMID:24074613   PMID:24097068   PMID:24416236   PMID:24491996   PMID:24595984   PMID:24909213   PMID:24934762   PMID:25128529   PMID:25136899   PMID:25277197   PMID:25328121  
PMID:25333908   PMID:25609649   PMID:25792522   PMID:25886207   PMID:26183398   PMID:26186194   PMID:26377811   PMID:26496610   PMID:26969828   PMID:27133561   PMID:27706911   PMID:27826100  
PMID:27880917   PMID:27926873   PMID:28256045   PMID:28423734   PMID:28426188   PMID:28468609   PMID:28514442   PMID:28528424   PMID:28611215   PMID:28794006   PMID:28944451   PMID:28986522  
PMID:29395067   PMID:29436063   PMID:29499646   PMID:29507755   PMID:29601666   PMID:29844126   PMID:29895970   PMID:30021884   PMID:30071870   PMID:30082728   PMID:30315105   PMID:30380416  
PMID:31343132   PMID:31343991   PMID:31527615   PMID:31569377   PMID:31662300   PMID:31741433   PMID:31753913   PMID:32416067  


Genomics

Comparative Map Data
TRPS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8115,408,496 - 115,809,673 (-)EnsemblGRCh38hg38GRCh38
GRCh388115,408,496 - 115,668,975 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378116,420,724 - 116,681,202 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368116,489,900 - 116,750,402 (-)NCBINCBI36hg18NCBI36
Build 348116,489,899 - 116,750,429NCBI
Celera8112,607,772 - 112,867,949 (-)NCBI
Cytogenetic Map8q23.3NCBI
HuRef8111,746,115 - 111,962,229 (-)NCBIHuRef
CHM1_18116,461,345 - 116,721,886 (-)NCBICHM1_1
Trps1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391550,518,149 - 50,754,027 (-)NCBIGRCm39mm39
GRCm39 Ensembl1550,518,148 - 50,753,859 (-)Ensembl
GRCm381550,654,757 - 50,890,631 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1550,654,752 - 50,890,463 (-)EnsemblGRCm38mm10GRCm38
MGSCv371550,486,303 - 50,721,587 (-)NCBIGRCm37mm9NCBIm37
MGSCv361550,490,516 - 50,720,115 (-)NCBImm8
Celera1552,221,354 - 52,433,937 (-)NCBICelera
Cytogenetic Map15CNCBI
cM Map1519.18NCBI
Trps1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2781,916,668 - 82,142,733 (-)NCBI
Rnor_6.0 Ensembl790,090,828 - 90,318,221 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0790,085,895 - 90,320,430 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0790,113,508 - 90,343,325 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4786,855,378 - 87,076,668 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1786,876,430 - 87,097,949 (-)NCBI
Celera778,810,727 - 79,029,498 (-)NCBICelera
Cytogenetic Map7q31NCBI
Trps1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541721,680,116 - 21,913,173 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541721,674,545 - 21,913,137 (-)NCBIChiLan1.0ChiLan1.0
TRPS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18114,626,357 - 114,854,222 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v08112,079,147 - 112,339,567 (-)NCBIMhudiblu_PPA_v0panPan3
TRPS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11315,017,180 - 15,273,177 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1315,022,652 - 15,273,666 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1315,005,955 - 15,263,461 (-)NCBI
ROS_Cfam_1.01315,305,244 - 15,563,018 (-)NCBI
UMICH_Zoey_3.11315,053,664 - 15,309,547 (-)NCBI
UNSW_CanFamBas_1.01315,150,277 - 15,407,958 (-)NCBI
UU_Cfam_GSD_1.01315,394,399 - 15,652,945 (-)NCBI
Trps1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530323,004,744 - 23,244,503 (+)NCBI
SpeTri2.0NW_00493647030,475,779 - 30,666,546 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TRPS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl422,911,039 - 23,158,769 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1422,905,627 - 23,162,862 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
TRPS1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18110,048,277 - 110,306,342 (-)NCBI
ChlSab1.1 Ensembl8110,050,705 - 110,260,394 (-)Ensembl
Vero_WHO_p1.0NW_02366603930,041,925 - 30,303,926 (+)NCBI
Trps1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476313,792,649 - 14,035,120 (-)NCBI

Position Markers
D8S547  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378116,462,158 - 116,462,275UniSTSGRCh37
GRCh378116,462,158 - 116,462,340UniSTSGRCh37
Build 368116,531,335 - 116,531,517RGDNCBI36
Celera8112,649,224 - 112,649,347UniSTS
Celera8112,649,224 - 112,649,412RGD
Cytogenetic Map8q24.12UniSTS
HuRef8111,788,119 - 111,788,311UniSTS
HuRef8111,788,119 - 111,788,246UniSTS
Marshfield Genetic Map8123.54UniSTS
Marshfield Genetic Map8123.54RGD
Genethon Genetic Map8122.6UniSTS
TNG Radiation Hybrid Map855536.0UniSTS
deCODE Assembly Map8117.26UniSTS
GeneMap99-GB4 RH Map8458.7UniSTS
Whitehead-YAC Contig Map8 UniSTS
NCBI RH Map81289.8UniSTS
RH16176  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378116,423,954 - 116,424,120UniSTSGRCh37
Build 368116,493,130 - 116,493,296RGDNCBI36
Celera8112,611,010 - 112,611,176RGD
Cytogenetic Map8q24.12UniSTS
HuRef8111,749,914 - 111,750,080UniSTS
GeneMap99-GB4 RH Map8458.7UniSTS
NCBI RH Map81289.8UniSTS
STS-H28054  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378116,421,201 - 116,421,363UniSTSGRCh37
Build 368116,490,377 - 116,490,539RGDNCBI36
Celera8112,608,249 - 112,608,411RGD
Cytogenetic Map8q24.12UniSTS
HuRef8111,747,152 - 111,747,314UniSTS
GeneMap99-GB4 RH Map8458.7UniSTS
NCBI RH Map81289.8UniSTS
WI-16182  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378116,580,791 - 116,580,894UniSTSGRCh37
Build 368116,649,966 - 116,650,069RGDNCBI36
Celera8112,767,503 - 112,767,606RGD
Cytogenetic Map8q24.12UniSTS
HuRef8111,907,028 - 111,907,131UniSTS
GeneMap99-GB4 RH Map8450.42UniSTS
Whitehead-RH Map8609.2UniSTS
NCBI RH Map81301.6UniSTS
RH99133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378116,420,808 - 116,420,978UniSTSGRCh37
Build 368116,489,984 - 116,490,154RGDNCBI36
Celera8112,607,856 - 112,608,026RGD
Cytogenetic Map8q24.12UniSTS
HuRef8111,746,199 - 111,746,369UniSTS
GeneMap99-GB4 RH Map8458.7UniSTS
SHGC-78729  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378116,534,286 - 116,534,613UniSTSGRCh37
Build 368116,603,461 - 116,603,788RGDNCBI36
Celera8112,720,990 - 112,721,317RGD
Cytogenetic Map8q24.12UniSTS
HuRef8111,860,472 - 111,860,799UniSTS
TNG Radiation Hybrid Map855423.0UniSTS
SHGC-78920  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378116,429,491 - 116,429,774UniSTSGRCh37
Build 368116,498,667 - 116,498,950RGDNCBI36
Celera8112,616,548 - 112,616,831RGD
Cytogenetic Map8q24.12UniSTS
HuRef8111,755,452 - 111,755,735UniSTS
TNG Radiation Hybrid Map855526.0UniSTS
RH122672  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378116,431,251 - 116,431,569UniSTSGRCh37
Build 368116,500,427 - 116,500,745RGDNCBI36
Celera8112,618,308 - 112,618,626RGD
Cytogenetic Map8q24.12UniSTS
HuRef8111,757,212 - 111,757,530UniSTS
TNG Radiation Hybrid Map855526.0UniSTS
G62471  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378116,619,265 - 116,619,554UniSTSGRCh37
Build 368116,688,440 - 116,688,729RGDNCBI36
Celera8112,805,982 - 112,806,271RGD
Cytogenetic Map8q24.12UniSTS
HuRef8111,945,508 - 111,945,797UniSTS
TNG Radiation Hybrid Map855402.0UniSTS
D8S98  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378116,477,855 - 116,478,029UniSTSGRCh37
Build 368116,547,031 - 116,547,205RGDNCBI36
Celera8112,664,916 - 112,665,090RGD
Cytogenetic Map8q24.12UniSTS
HuRef8111,803,814 - 111,803,988UniSTS
SHGC-105098  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378116,591,731 - 116,592,080UniSTSGRCh37
Build 368116,660,906 - 116,661,255RGDNCBI36
Celera8112,778,449 - 112,778,797RGD
Cytogenetic Map8q24.12UniSTS
HuRef8111,917,972 - 111,918,320UniSTS
TNG Radiation Hybrid Map855382.0UniSTS
A007K26  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378116,423,986 - 116,424,161UniSTSGRCh37
Build 368116,493,162 - 116,493,337RGDNCBI36
Celera8112,611,042 - 112,611,217RGD
Cytogenetic Map8q24.12UniSTS
HuRef8111,749,946 - 111,750,121UniSTS
GeneMap99-GB4 RH Map8458.7UniSTS
NCBI RH Map81298.1UniSTS
TRPS1__5142.2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378116,422,007 - 116,422,834UniSTSGRCh37
Build 368116,491,183 - 116,492,010RGDNCBI36
Celera8112,609,062 - 112,609,890RGD
HuRef8111,747,966 - 111,748,794UniSTS
STS-T56980  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378116,587,770 - 116,587,893UniSTSGRCh37
Build 368116,656,945 - 116,657,068RGDNCBI36
Celera8112,774,488 - 112,774,611RGD
Cytogenetic Map8q24.12UniSTS
HuRef8111,914,011 - 111,914,134UniSTS
GeneMap99-GB4 RH Map8458.7UniSTS
NCBI RH Map81293.5UniSTS
G17280  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378116,591,914 - 116,592,109UniSTSGRCh37
Build 368116,661,089 - 116,661,284RGDNCBI36
Celera8112,778,631 - 112,778,826RGD
Cytogenetic Map8q24.12UniSTS
HuRef8111,918,154 - 111,918,349UniSTS
D8S547  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q24.12UniSTS
TNG Radiation Hybrid Map855536.0UniSTS
GeneMap99-GB4 RH Map8458.7UniSTS
NCBI RH Map81289.8UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR372hsa-miR-372-3pMirtarbaseexternal_infoLuciferase reporter assay//MicroarrayFunctional MTI19229866
MIR372hsa-miR-372-5pMirecordsexternal_infoNANA19229866
MIR222hsa-miR-222-3pOncomiRDBexternal_infoNANA21868360
MIR222hsa-miR-222-3pOncomiRDBexternal_infoNANA21673316
MIR221hsa-miR-221-3pOncomiRDBexternal_infoNANA21868360
MIR221hsa-miR-221-3pOncomiRDBexternal_infoNANA21673316
MIR302Dhsa-miR-302d-3pMirtarbaseexternal_infoLuciferase reporter assay//MicroarrayFunctional MTI19229866
MIR302Dhsa-miR-302d-5pMirecordsexternal_infoNANA19229866

Predicted Target Of
Summary Value
Count of predictions:3785
Count of miRNA genes:1260
Interacting mature miRNAs:1623
Transcripts:ENST00000220888, ENST00000395713, ENST00000395715, ENST00000422939, ENST00000451156, ENST00000517323, ENST00000518018, ENST00000519076, ENST00000519674, ENST00000519815, ENST00000520276
Prediction methods:Microtar, 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 477 484 59 126 90 9 948 329 142 47 480 143 120 21 686
Low 1867 2390 1498 329 1689 288 3400 1790 3547 356 958 1433 55 1 1182 2099 3 1
Below cutoff 62 116 162 162 129 161 5 77 36 8 13 21 1 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF178030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF183810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF264784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC125020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA399687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC339831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF454910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF454911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF454912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF454923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF454932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000220888   ⟹   ENSP00000220888
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8115,412,549 - 115,668,702 (-)Ensembl
RefSeq Acc Id: ENST00000395713   ⟹   ENSP00000379063
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8115,619,747 - 115,661,678 (-)Ensembl
RefSeq Acc Id: ENST00000395715   ⟹   ENSP00000379065
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8115,408,496 - 115,669,001 (-)Ensembl
RefSeq Acc Id: ENST00000422939   ⟹   ENSP00000405028
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8115,619,913 - 115,809,673 (-)Ensembl
RefSeq Acc Id: ENST00000451156   ⟹   ENSP00000400360
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8115,623,611 - 115,668,294 (-)Ensembl
RefSeq Acc Id: ENST00000517323   ⟹   ENSP00000430803
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8115,587,001 - 115,667,981 (-)Ensembl
RefSeq Acc Id: ENST00000518018   ⟹   ENSP00000428121
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8115,414,429 - 115,492,221 (-)Ensembl
RefSeq Acc Id: ENST00000519076   ⟹   ENSP00000428910
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8115,413,814 - 115,620,070 (-)Ensembl
RefSeq Acc Id: ENST00000519674   ⟹   ENSP00000429174
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8115,515,190 - 115,668,903 (-)Ensembl
RefSeq Acc Id: ENST00000519815   ⟹   ENSP00000430383
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8115,619,774 - 115,669,483 (-)Ensembl
RefSeq Acc Id: ENST00000520276   ⟹   ENSP00000428680
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8115,413,922 - 115,668,007 (-)Ensembl
RefSeq Acc Id: ENST00000640765   ⟹   ENSP00000492037
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8115,408,496 - 115,668,012 (-)Ensembl
RefSeq Acc Id: NM_001282902   ⟹   NP_001269831
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388115,408,496 - 115,668,013 (-)NCBI
HuRef8111,746,115 - 112,006,487 (-)NCBI
CHM1_18116,461,345 - 116,720,876 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282903   ⟹   NP_001269832
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388115,408,496 - 115,668,975 (-)NCBI
HuRef8111,746,115 - 112,006,487 (-)NCBI
CHM1_18116,461,345 - 116,721,886 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330599   ⟹   NP_001317528
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388115,408,496 - 115,668,975 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014112   ⟹   NP_054831
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388115,408,496 - 115,668,975 (-)NCBI
GRCh378116,420,724 - 116,713,299 (-)NCBI
Build 368116,489,900 - 116,750,402 (-)NCBI Archive
HuRef8111,746,115 - 112,006,487 (-)NCBI
CHM1_18116,461,345 - 116,721,886 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_054831   ⟸   NM_014112
- Peptide Label: isoform 1
- UniProtKB: Q9UHF7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269831   ⟸   NM_001282902
- Peptide Label: isoform 2
- UniProtKB: Q9UHF7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269832   ⟸   NM_001282903
- Peptide Label: isoform 3
- UniProtKB: Q9UHF7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001317528   ⟸   NM_001330599
- Peptide Label: isoform 4
- UniProtKB: Q9UHF7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000430803   ⟸   ENST00000517323
RefSeq Acc Id: ENSP00000428121   ⟸   ENST00000518018
RefSeq Acc Id: ENSP00000400360   ⟸   ENST00000451156
RefSeq Acc Id: ENSP00000428910   ⟸   ENST00000519076
RefSeq Acc Id: ENSP00000430383   ⟸   ENST00000519815
RefSeq Acc Id: ENSP00000429174   ⟸   ENST00000519674
RefSeq Acc Id: ENSP00000428680   ⟸   ENST00000520276
RefSeq Acc Id: ENSP00000492037   ⟸   ENST00000640765
RefSeq Acc Id: ENSP00000220888   ⟸   ENST00000220888
RefSeq Acc Id: ENSP00000379065   ⟸   ENST00000395715
RefSeq Acc Id: ENSP00000379063   ⟸   ENST00000395713
RefSeq Acc Id: ENSP00000405028   ⟸   ENST00000422939
Protein Domains
C2H2-type   GATA-type

Promoters
RGD ID:7214027
Promoter ID:EPDNEW_H12756
Type:initiation region
Name:TRPS1_2
Description:transcriptional repressor GATA binding 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12757  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388115,668,622 - 115,668,682EPDNEW
RGD ID:7214021
Promoter ID:EPDNEW_H12757
Type:initiation region
Name:TRPS1_1
Description:transcriptional repressor GATA binding 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12756  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388115,668,975 - 115,669,035EPDNEW
RGD ID:6807088
Promoter ID:HG_KWN:61951
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:ENST00000395713,   OTTHUMT00000286437,   UC003YNZ.1,   UC010MCY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368116,749,656 - 116,750,452 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
TRPS1, 1-BP INS, 2406G insertion Trichorhinophalangeal dysplasia type I [RCV000005913] Chr8:8q24.12 pathogenic
TRPS1, 1-BP INS, 2441T insertion Trichorhinophalangeal dysplasia type I [RCV000005914] Chr8:8q24.12 pathogenic
TRPS1, 4-BP INS, 3360GGAG insertion Trichorhinophalangeal dysplasia type I [RCV000005916] Chr8:8q24.12 pathogenic
NM_014112.5(TRPS1):c.1053C>A (p.Cys351Ter) single nucleotide variant Trichorhinophalangeal dysplasia type I [RCV000005911] Chr8:115604916 [GRCh38]
Chr8:116617143 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.1870C>T (p.Arg624Ter) single nucleotide variant Trichorhinophalangeal dysplasia type I [RCV000005912]|not provided [RCV000420322] Chr8:115604099 [GRCh38]
Chr8:116616326 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.2557C>T (p.Arg853Ter) single nucleotide variant Trichorhinophalangeal dysplasia type I [RCV000005915]|not provided [RCV000760409] Chr8:115587144 [GRCh38]
Chr8:116599371 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.2740A>C (p.Thr914Pro) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV000005917] Chr8:115418413 [GRCh38]
Chr8:116430641 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.3315C>G (p.Tyr1105Ter) single nucleotide variant Trichorhinophalangeal dysplasia type I [RCV000005918] Chr8:115414593 [GRCh38]
Chr8:116426821 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.2762G>A (p.Arg921Gln) single nucleotide variant Trichorhinophalangeal dysplasia type I [RCV000505300]|Trichorhinophalangeal syndrome, type III [RCV000005919]|Trichorhinophalangeal syndrome, type III [RCV000706380] Chr8:115418391 [GRCh38]
Chr8:116430619 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.2795C>T (p.Ala932Val) single nucleotide variant Trichorhinophalangeal dysplasia type I [RCV000505309]|Trichorhinophalangeal syndrome, type III [RCV000005920]|Trichorhinophalangeal syndrome, type III [RCV001212523]|not provided [RCV001091702] Chr8:115418358 [GRCh38]
Chr8:116430586 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.2893C>T (p.Arg965Cys) single nucleotide variant Trichorhinophalangeal dysplasia type I [RCV000005921]|Trichorhinophalangeal syndrome, type III [RCV000700955] Chr8:115415015 [GRCh38]
Chr8:116427243 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.2894G>A (p.Arg965His) single nucleotide variant Trichorhinophalangeal dysplasia type I [RCV000005922]|Trichorhinophalangeal syndrome, type III [RCV000557205] Chr8:115415014 [GRCh38]
Chr8:116427242 [GRCh37]
Chr8:8q23.3
pathogenic|likely pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21
pathogenic
NM_014112.4(TRPS1):c.3351C>T (p.Phe1117=) single nucleotide variant Malignant melanoma [RCV000061735] Chr8:115414557 [GRCh38]
Chr8:116426785 [GRCh37]
Chr8:116495961 [NCBI36]
Chr8:8q23.3
not provided
NM_014112.4(TRPS1):c.2701-79760A>G single nucleotide variant Lung cancer [RCV000106948] Chr8:115498212 [GRCh38]
Chr8:116510439 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.4(TRPS1):c.2700+33384C>G single nucleotide variant Lung cancer [RCV000106949] Chr8:115553617 [GRCh38]
Chr8:116565844 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.2627C>T (p.Ser876Phe) single nucleotide variant Inborn genetic diseases [RCV000190752] Chr8:115587074 [GRCh38]
Chr8:116599301 [GRCh37]
Chr8:8q23.3
pathogenic|uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q23.3-24.12(chr8:113418060-120975305)x1 copy number loss See cases [RCV000135291] Chr8:113418060..120975305 [GRCh38]
Chr8:114430289..121987545 [GRCh37]
Chr8:114499465..122056726 [NCBI36]
Chr8:8q23.3-24.12
pathogenic
GRCh38/hg38 8q23.3-24.12(chr8:112528342-120083041)x1 copy number loss See cases [RCV000135819] Chr8:112528342..120083041 [GRCh38]
Chr8:113540571..121095280 [GRCh37]
Chr8:113609747..121164461 [NCBI36]
Chr8:8q23.3-24.12
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q23.3-24.13(chr8:114560780-122594102)x1 copy number loss See cases [RCV000139027] Chr8:114560780..122594102 [GRCh38]
Chr8:115573009..123606341 [GRCh37]
Chr8:115642185..123675522 [NCBI36]
Chr8:8q23.3-24.13
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8q23.3(chr8:115401331-115502029)x1 copy number loss See cases [RCV000139460] Chr8:115401331..115502029 [GRCh38]
Chr8:116413559..116514256 [GRCh37]
Chr8:116482735..116583432 [NCBI36]
Chr8:8q23.3
pathogenic
GRCh38/hg38 8q23.3-24.13(chr8:113933305-122621741)x1 copy number loss See cases [RCV000140680] Chr8:113933305..122621741 [GRCh38]
Chr8:114945534..123633980 [GRCh37]
Chr8:115014710..123703161 [NCBI36]
Chr8:8q23.3-24.13
pathogenic
GRCh38/hg38 8q23.3(chr8:115485621-115514859)x3 copy number gain See cases [RCV000140833] Chr8:115485621..115514859 [GRCh38]
Chr8:116497848..116527086 [GRCh37]
Chr8:116567024..116596262 [NCBI36]
Chr8:8q23.3
likely benign
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
NM_014112.5(TRPS1):c.2822C>A (p.Ser941Ter) single nucleotide variant not provided [RCV000388619] Chr8:115418331 [GRCh38]
Chr8:116430559 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter) single nucleotide variant Langer-Giedion syndrome [RCV000856743]|Trichorhinophalangeal dysplasia type I [RCV000258505]|Trichorhinophalangeal syndrome, type III [RCV000543883]|not provided [RCV000514786] Chr8:115604339 [GRCh38]
Chr8:116616566 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.3328C>T (p.Leu1110Phe) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV001079045]|not provided [RCV000364263] Chr8:115414580 [GRCh38]
Chr8:116426808 [GRCh37]
Chr8:8q23.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014112.5(TRPS1):c.1693C>T (p.Gln565Ter) single nucleotide variant Trichorhinophalangeal dysplasia type I [RCV000206810] Chr8:115604276 [GRCh38]
Chr8:116616503 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.3514G>C (p.Asp1172His) single nucleotide variant not specified [RCV000238621] Chr8:115414394 [GRCh38]
Chr8:116426622 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*4159T>C single nucleotide variant Trichorhinophalangeal Syndrome [RCV000273465] Chr8:115409864 [GRCh38]
Chr8:116422092 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.423G>T (p.Pro141=) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV000537350]|not specified [RCV000246259] Chr8:115619675 [GRCh38]
Chr8:116631902 [GRCh37]
Chr8:8q23.3
benign
NM_014112.5(TRPS1):c.-9dup duplication Trichorhinophalangeal dysplasia type I [RCV000988107]|not specified [RCV000251475] Chr8:115623645..115623646 [GRCh38]
Chr8:116635872..116635873 [GRCh37]
Chr8:8q23.3
benign
NM_014112.5(TRPS1):c.2823+15C>A single nucleotide variant not specified [RCV000254234] Chr8:115418315 [GRCh38]
Chr8:116430543 [GRCh37]
Chr8:8q23.3
benign|likely benign
NM_014112.5(TRPS1):c.2700+10T>C single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV000549227]|not specified [RCV000244666] Chr8:115586991 [GRCh38]
Chr8:116599218 [GRCh37]
Chr8:8q23.3
benign
NM_014112.5(TRPS1):c.2700+29A>C single nucleotide variant not specified [RCV000249619] Chr8:115586972 [GRCh38]
Chr8:116599199 [GRCh37]
Chr8:8q23.3
benign
NM_014112.5(TRPS1):c.*73T>C single nucleotide variant Trichorhinophalangeal Syndrome [RCV000275516] Chr8:115413950 [GRCh38]
Chr8:116426178 [GRCh37]
Chr8:8q23.3
benign
NM_014112.5(TRPS1):c.*4305T>G single nucleotide variant Trichorhinophalangeal Syndrome [RCV000313668] Chr8:115409718 [GRCh38]
Chr8:116421946 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.*1843T>A single nucleotide variant Trichorhinophalangeal Syndrome [RCV000332427] Chr8:115412180 [GRCh38]
Chr8:116424408 [GRCh37]
Chr8:8q23.3
benign
NM_014112.5(TRPS1):c.*3636A>G single nucleotide variant Trichorhinophalangeal Syndrome [RCV000321135] Chr8:115410387 [GRCh38]
Chr8:116422615 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*2539G>T single nucleotide variant Trichorhinophalangeal Syndrome [RCV000321536] Chr8:115411484 [GRCh38]
Chr8:116423712 [GRCh37]
Chr8:8q23.3
benign
NM_014112.5(TRPS1):c.*338del deletion Trichorhinophalangeal syndrome [RCV000367433] Chr8:115413685 [GRCh38]
Chr8:116425913 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*391T>C single nucleotide variant Trichorhinophalangeal Syndrome [RCV000394251] Chr8:115413632 [GRCh38]
Chr8:116425860 [GRCh37]
Chr8:8q23.3
benign
NM_014112.5(TRPS1):c.*486A>G single nucleotide variant Trichorhinophalangeal Syndrome [RCV000394261] Chr8:115413537 [GRCh38]
Chr8:116425765 [GRCh37]
Chr8:8q23.3
benign
NM_014112.5(TRPS1):c.*2086G>T single nucleotide variant Trichorhinophalangeal Syndrome [RCV000395601] Chr8:115411937 [GRCh38]
Chr8:116424165 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.2976G>A (p.Pro992=) single nucleotide variant not provided [RCV000592632] Chr8:115414932 [GRCh38]
Chr8:116427160 [GRCh37]
Chr8:8q23.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014112.5(TRPS1):c.*508G>A single nucleotide variant Trichorhinophalangeal Syndrome [RCV000284758] Chr8:115413515 [GRCh38]
Chr8:116425743 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.*616G>A single nucleotide variant Trichorhinophalangeal Syndrome [RCV000285295] Chr8:115413407 [GRCh38]
Chr8:116425635 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.2223G>A (p.Glu741=) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV000945637] Chr8:115587478 [GRCh38]
Chr8:116599705 [GRCh37]
Chr8:8q23.3
benign|likely benign
NM_014112.5(TRPS1):c.*2255C>T single nucleotide variant Trichorhinophalangeal Syndrome [RCV000346651] Chr8:115411768 [GRCh38]
Chr8:116423996 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.*4289G>T single nucleotide variant Trichorhinophalangeal Syndrome [RCV000370368] Chr8:115409734 [GRCh38]
Chr8:116421962 [GRCh37]
Chr8:8q23.3
benign
NM_014112.5(TRPS1):c.*4751T>G single nucleotide variant Trichorhinophalangeal Syndrome [RCV000370473] Chr8:115409272 [GRCh38]
Chr8:116421500 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*1501A>G single nucleotide variant Trichorhinophalangeal Syndrome [RCV000370713] Chr8:115412522 [GRCh38]
Chr8:116424750 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.1965G>A (p.Ser655=) single nucleotide variant Trichorhinophalangeal Syndrome [RCV000397266] Chr8:115604004 [GRCh38]
Chr8:116616231 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.2460C>T (p.Thr820=) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV000952362] Chr8:115587241 [GRCh38]
Chr8:116599468 [GRCh37]
Chr8:8q23.3
benign|likely benign
NM_014112.5(TRPS1):c.*4593_*4597AAAGG[1] microsatellite Trichorhinophalangeal syndrome [RCV000397682] Chr8:115409421..115409425 [GRCh38]
Chr8:116421649..116421653 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.3224C>G (p.Ser1075Cys) single nucleotide variant not provided [RCV000981661] Chr8:115414684 [GRCh38]
Chr8:116426912 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.*4973G>A single nucleotide variant Trichorhinophalangeal Syndrome [RCV000304027] Chr8:115409050 [GRCh38]
Chr8:116421278 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.*3181T>G single nucleotide variant Trichorhinophalangeal Syndrome [RCV000372134] Chr8:115410842 [GRCh38]
Chr8:116423070 [GRCh37]
Chr8:8q23.3
benign
NM_014112.5(TRPS1):c.2766G>A (p.Lys922=) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV000878121] Chr8:115418387 [GRCh38]
Chr8:116430615 [GRCh37]
Chr8:8q23.3
benign
NM_014112.5(TRPS1):c.*4315T>G single nucleotide variant Trichorhinophalangeal Syndrome [RCV000399837] Chr8:115409708 [GRCh38]
Chr8:116421936 [GRCh37]
Chr8:8q23.3
benign
NM_014112.5(TRPS1):c.*4741G>T single nucleotide variant Trichorhinophalangeal Syndrome [RCV000271737] Chr8:115409282 [GRCh38]
Chr8:116421510 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*2110G>A single nucleotide variant Trichorhinophalangeal Syndrome [RCV000288122] Chr8:115411913 [GRCh38]
Chr8:116424141 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.-188C>G single nucleotide variant Trichorhinophalangeal Syndrome [RCV000305437] Chr8:115668611 [GRCh38]
Chr8:116680838 [GRCh37]
Chr8:8q23.3
benign
NM_014112.5(TRPS1):c.3202G>A (p.Val1068Ile) single nucleotide variant Trichorhinophalangeal Syndrome [RCV000327215] Chr8:115414706 [GRCh38]
Chr8:116426934 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.*5264T>A single nucleotide variant Trichorhinophalangeal Syndrome [RCV000349352] Chr8:115408759 [GRCh38]
Chr8:116420987 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.*1989G>T single nucleotide variant Trichorhinophalangeal Syndrome [RCV000359161] Chr8:115412034 [GRCh38]
Chr8:116424262 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.*684T>C single nucleotide variant Trichorhinophalangeal Syndrome [RCV000382016] Chr8:115413339 [GRCh38]
Chr8:116425567 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*2851C>T single nucleotide variant Trichorhinophalangeal Syndrome [RCV000350462] Chr8:115411172 [GRCh38]
Chr8:116423400 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.*3035A>G single nucleotide variant Trichorhinophalangeal Syndrome [RCV000351168] Chr8:115410988 [GRCh38]
Chr8:116423216 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.2485C>G (p.Pro829Ala) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV000950580] Chr8:115587216 [GRCh38]
Chr8:116599443 [GRCh37]
Chr8:8q23.3
benign|likely benign
NM_014112.5(TRPS1):c.-78G>A single nucleotide variant Trichorhinophalangeal Syndrome [RCV000289904] Chr8:115623715 [GRCh38]
Chr8:116635942 [GRCh37]
Chr8:8q23.3
benign
NM_014112.5(TRPS1):c.*4845_*4847ATA[1] microsatellite Trichorhinophalangeal syndrome [RCV000340172] Chr8:115409173..115409175 [GRCh38]
Chr8:116421401..116421403 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*1394T>C single nucleotide variant Trichorhinophalangeal Syndrome [RCV000273815] Chr8:115412629 [GRCh38]
Chr8:116424857 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.967-14C>T single nucleotide variant Trichorhinophalangeal Syndrome [RCV000353378] Chr8:115605016 [GRCh38]
Chr8:116617243 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.*3400C>T single nucleotide variant Trichorhinophalangeal Syndrome [RCV000378167] Chr8:115410623 [GRCh38]
Chr8:116422851 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.*2761= single nucleotide variant Trichorhinophalangeal Syndrome [RCV000401103] Chr8:115411262 [GRCh38]
Chr8:116423490 [GRCh37]
Chr8:8q23.3
benign
NM_014112.5(TRPS1):c.1456G>A (p.Asp486Asn) single nucleotide variant Trichorhinophalangeal Syndrome [RCV000361621] Chr8:115604513 [GRCh38]
Chr8:116616740 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.-470T>C single nucleotide variant Trichorhinophalangeal syndrome [RCV000291916] Chr8:115668893 [GRCh38]
Chr8:116681120 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.3482A>G (p.Asn1161Ser) single nucleotide variant Trichorhinophalangeal Syndrome [RCV000309623] Chr8:115414426 [GRCh38]
Chr8:116426654 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.*1253A>G single nucleotide variant Trichorhinophalangeal Syndrome [RCV000330845] Chr8:115412770 [GRCh38]
Chr8:116424998 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.*1981T>G single nucleotide variant Trichorhinophalangeal Syndrome [RCV000353436] Chr8:115412042 [GRCh38]
Chr8:116424270 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.3015C>G (p.His1005Gln) single nucleotide variant Trichorhinophalangeal Syndrome [RCV000379435] Chr8:115414893 [GRCh38]
Chr8:116427121 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.*4633C>T single nucleotide variant Trichorhinophalangeal Syndrome [RCV000341870] Chr8:115409390 [GRCh38]
Chr8:116421618 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.-298C>T single nucleotide variant Trichorhinophalangeal Syndrome [RCV000275308] Chr8:115668721 [GRCh38]
Chr8:116680948 [GRCh37]
Chr8:8q23.3
benign
NM_014112.5(TRPS1):c.475G>T (p.Asp159Tyr) single nucleotide variant Trichorhinophalangeal Syndrome [RCV000292690] Chr8:115619623 [GRCh38]
Chr8:116631850 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.*2842G>A single nucleotide variant Trichorhinophalangeal Syndrome [RCV000310889] Chr8:115411181 [GRCh38]
Chr8:116423409 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.*2538C>T single nucleotide variant Trichorhinophalangeal Syndrome [RCV000355226] Chr8:115411485 [GRCh38]
Chr8:116423713 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.-318_-317CT[9] microsatellite Trichorhinophalangeal syndrome [RCV000355901] Chr8:115668718..115668723 [GRCh38]
Chr8:116680945..116680950 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*4657C>T single nucleotide variant Trichorhinophalangeal Syndrome [RCV000381364] Chr8:115409366 [GRCh38]
Chr8:116421594 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.*3789G>A single nucleotide variant Trichorhinophalangeal Syndrome [RCV000382103] Chr8:115410234 [GRCh38]
Chr8:116422462 [GRCh37]
Chr8:8q23.3
benign
NM_014112.5(TRPS1):c.542A>G (p.Gln181Arg) single nucleotide variant Trichorhinophalangeal Syndrome [RCV000386994] Chr8:115619556 [GRCh38]
Chr8:116631783 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.-320T>C single nucleotide variant Trichorhinophalangeal Syndrome [RCV000276345] Chr8:115668743 [GRCh38]
Chr8:116680970 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*2290C>T single nucleotide variant Trichorhinophalangeal Syndrome [RCV000294117] Chr8:115411733 [GRCh38]
Chr8:116423961 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*4114T>G single nucleotide variant Trichorhinophalangeal Syndrome [RCV000312070] Chr8:115409909 [GRCh38]
Chr8:116422137 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.*5386A>G single nucleotide variant Trichorhinophalangeal Syndrome [RCV000334237] Chr8:115408637 [GRCh38]
Chr8:116420865 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.*4465G>A single nucleotide variant Trichorhinophalangeal Syndrome [RCV000334626] Chr8:115409558 [GRCh38]
Chr8:116421786 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.*1143T>C single nucleotide variant Trichorhinophalangeal Syndrome [RCV000383104] Chr8:115412880 [GRCh38]
Chr8:116425108 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.*718C>T single nucleotide variant Trichorhinophalangeal Syndrome [RCV000324980] Chr8:115413305 [GRCh38]
Chr8:116425533 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.*2092C>T single nucleotide variant Trichorhinophalangeal Syndrome [RCV000345464] Chr8:115411931 [GRCh38]
Chr8:116424159 [GRCh37]
Chr8:8q23.3
benign
NM_014112.5(TRPS1):c.*5352T>G single nucleotide variant Trichorhinophalangeal Syndrome [RCV000388746] Chr8:115408671 [GRCh38]
Chr8:116420899 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.*5300_*5303del deletion Trichorhinophalangeal syndrome [RCV000294440] Chr8:115408720..115408723 [GRCh38]
Chr8:116420948..116420951 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.2658G>T (p.Ser886=) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV000644428] Chr8:115587043 [GRCh38]
Chr8:116599270 [GRCh37]
Chr8:8q23.3
benign|likely benign
NM_014112.5(TRPS1):c.*2378A>C single nucleotide variant Trichorhinophalangeal Syndrome [RCV000294721] Chr8:115411645 [GRCh38]
Chr8:116423873 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*401A>C single nucleotide variant Trichorhinophalangeal Syndrome [RCV000336123] Chr8:115413622 [GRCh38]
Chr8:116425850 [GRCh37]
Chr8:8q23.3
benign
NM_014112.5(TRPS1):c.*5238A>T single nucleotide variant Trichorhinophalangeal Syndrome [RCV000385057] Chr8:115408785 [GRCh38]
Chr8:116421013 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.*3538del deletion Trichorhinophalangeal syndrome [RCV000408628] Chr8:115410485 [GRCh38]
Chr8:116422713 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*5155C>T single nucleotide variant Trichorhinophalangeal Syndrome [RCV000345715] Chr8:115408868 [GRCh38]
Chr8:116421096 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.665A>G (p.Asn222Ser) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV000983965] Chr8:115619433 [GRCh38]
Chr8:116631660 [GRCh37]
Chr8:8q23.3
benign|likely benign
NM_014112.5(TRPS1):c.*2537del deletion Trichorhinophalangeal syndrome [RCV000262826] Chr8:115411486 [GRCh38]
Chr8:116423714 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.2441G>T (p.Arg814Leu) single nucleotide variant Trichorhinophalangeal Syndrome [RCV000314140] Chr8:115587260 [GRCh38]
Chr8:116599487 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.*498G>A single nucleotide variant Trichorhinophalangeal Syndrome [RCV000337433] Chr8:115413525 [GRCh38]
Chr8:116425753 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.1902C>G (p.Phe634Leu) single nucleotide variant Trichorhinophalangeal Syndrome [RCV000310495] Chr8:115604067 [GRCh38]
Chr8:116616294 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*2675G>A single nucleotide variant Trichorhinophalangeal Syndrome [RCV000264006] Chr8:115411348 [GRCh38]
Chr8:116423576 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.*3113G>A single nucleotide variant Trichorhinophalangeal Syndrome [RCV000279915] Chr8:115410910 [GRCh38]
Chr8:116423138 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.*4761T>C single nucleotide variant Trichorhinophalangeal Syndrome [RCV000297111] Chr8:115409262 [GRCh38]
Chr8:116421490 [GRCh37]
Chr8:8q23.3
benign
NM_014112.5(TRPS1):c.*381A>G single nucleotide variant Trichorhinophalangeal Syndrome [RCV000315113] Chr8:115413642 [GRCh38]
Chr8:116425870 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.*2417G>A single nucleotide variant Trichorhinophalangeal Syndrome [RCV000315802] Chr8:115411606 [GRCh38]
Chr8:116423834 [GRCh37]
Chr8:8q23.3
benign
NM_014112.5(TRPS1):c.*2827= single nucleotide variant Trichorhinophalangeal Syndrome [RCV000362968] Chr8:115411196 [GRCh38]
Chr8:116423424 [GRCh37]
Chr8:8q23.3
benign
NM_014112.5(TRPS1):c.422C>T (p.Pro141Leu) single nucleotide variant Trichorhinophalangeal Syndrome [RCV000388082] Chr8:115619676 [GRCh38]
Chr8:116631903 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*431C>T single nucleotide variant Trichorhinophalangeal Syndrome [RCV000297642] Chr8:115413592 [GRCh38]
Chr8:116425820 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.1083C>T (p.Thr361=) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV000950310] Chr8:115604886 [GRCh38]
Chr8:116617113 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.*4835A>T single nucleotide variant Trichorhinophalangeal Syndrome [RCV000390207] Chr8:115409188 [GRCh38]
Chr8:116421416 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.-320_-319del deletion Trichorhinophalangeal syndrome [RCV000370827] Chr8:115668742..115668743 [GRCh38]
Chr8:116680969..116680970 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.1788T>C (p.Tyr596=) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV000536580] Chr8:115604181 [GRCh38]
Chr8:116616408 [GRCh37]
Chr8:8q23.3
benign
NM_014112.5(TRPS1):c.2701-9_2701-8del deletion Trichorhinophalangeal syndrome [RCV000281575] Chr8:115418460..115418461 [GRCh38]
Chr8:116430688..116430689 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.603A>G (p.Gln201=) single nucleotide variant Trichorhinophalangeal Syndrome [RCV000318220] Chr8:115619495 [GRCh38]
Chr8:116631722 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.1857G>A (p.Ala619=) single nucleotide variant not provided [RCV000964599] Chr8:115604112 [GRCh38]
Chr8:116616339 [GRCh37]
Chr8:8q23.3
benign|likely benign
NM_014112.5(TRPS1):c.*2848A>T single nucleotide variant Trichorhinophalangeal Syndrome [RCV000395792] Chr8:115411175 [GRCh38]
Chr8:116423403 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.*2951T>C single nucleotide variant Trichorhinophalangeal Syndrome [RCV000395798] Chr8:115411072 [GRCh38]
Chr8:116423300 [GRCh37]
Chr8:8q23.3
benign
NM_014112.5(TRPS1):c.1299C>G (p.Leu433=) single nucleotide variant not provided [RCV000952307] Chr8:115604670 [GRCh38]
Chr8:116616897 [GRCh37]
Chr8:8q23.3
benign|likely benign
NM_014112.5(TRPS1):c.*4817= single nucleotide variant Trichorhinophalangeal Syndrome [RCV000300428] Chr8:115409206 [GRCh38]
Chr8:116421434 [GRCh37]
Chr8:8q23.3
benign
NM_014112.5(TRPS1):c.*4557G>T single nucleotide variant Trichorhinophalangeal Syndrome [RCV000300676] Chr8:115409466 [GRCh38]
Chr8:116421694 [GRCh37]
Chr8:8q23.3
benign
NM_014112.5(TRPS1):c.*1980_*1981insG insertion Trichorhinophalangeal Syndrome [RCV000300886] Chr8:115412042..115412043 [GRCh38]
Chr8:116424270..116424271 [GRCh37]
Chr8:8q23.3
benign
NM_014112.5(TRPS1):c.*566G>A single nucleotide variant Trichorhinophalangeal Syndrome [RCV000342625] Chr8:115413457 [GRCh38]
Chr8:116425685 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.170A>G (p.Glu57Gly) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV000950311] Chr8:115619928 [GRCh38]
Chr8:116632155 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.*3338C>T single nucleotide variant Trichorhinophalangeal Syndrome [RCV000281142] Chr8:115410685 [GRCh38]
Chr8:116422913 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*4754_*4761dup duplication Trichorhinophalangeal syndrome [RCV000260514] Chr8:115409261..115409262 [GRCh38]
Chr8:116421489..116421490 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.933G>A (p.Arg311=) single nucleotide variant not provided [RCV000309432] Chr8:115619165 [GRCh38]
Chr8:116631392 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*1843del deletion Trichorhinophalangeal syndrome [RCV000260929] Chr8:115412180 [GRCh38]
Chr8:116424408 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*1121G>T single nucleotide variant Trichorhinophalangeal Syndrome [RCV000272287] Chr8:115412902 [GRCh38]
Chr8:116425130 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*4628T>C single nucleotide variant Trichorhinophalangeal Syndrome [RCV000283190] Chr8:115409395 [GRCh38]
Chr8:116421623 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*2010dup duplication Trichorhinophalangeal Syndrome [RCV000305742] Chr8:115412012..115412013 [GRCh38]
Chr8:116424240..116424241 [GRCh37]
Chr8:8q23.3
benign
NM_014112.5(TRPS1):c.1195C>T (p.Leu399Phe) single nucleotide variant not provided [RCV000945422]|not specified [RCV000351331] Chr8:115604774 [GRCh38]
Chr8:116617001 [GRCh37]
Chr8:8q23.3
benign|likely benign
NM_014112.5(TRPS1):c.1743C>G (p.Pro581=) single nucleotide variant not provided [RCV000317877] Chr8:115604226 [GRCh38]
Chr8:116616453 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*4747T>G single nucleotide variant Trichorhinophalangeal Syndrome [RCV000275989] Chr8:115409276 [GRCh38]
Chr8:116421504 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.1607A>G (p.Tyr536Cys) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV001316464]|not provided [RCV000325793] Chr8:115604362 [GRCh38]
Chr8:116616589 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*3674T>C single nucleotide variant Trichorhinophalangeal Syndrome [RCV000266542] Chr8:115410349 [GRCh38]
Chr8:116422577 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.3319del (p.Leu1107fs) deletion not provided [RCV000266845] Chr8:115414589 [GRCh38]
Chr8:116426817 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.185G>A (p.Ser62Asn) single nucleotide variant not provided [RCV000489972] Chr8:115619913 [GRCh38]
Chr8:116632140 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.1687T>A (p.Tyr563Asn) single nucleotide variant Trichorhinophalangeal Syndrome [RCV000302122] Chr8:115604282 [GRCh38]
Chr8:116616509 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.-306C>T single nucleotide variant Trichorhinophalangeal Syndrome [RCV000330203] Chr8:115668729 [GRCh38]
Chr8:116680956 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*2740del deletion Trichorhinophalangeal syndrome [RCV000361928] Chr8:115411283 [GRCh38]
Chr8:116423511 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.-258G>A single nucleotide variant Trichorhinophalangeal Syndrome [RCV000399301] Chr8:115668681 [GRCh38]
Chr8:116680908 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*1983_*1984insG insertion Trichorhinophalangeal syndrome [RCV000399263] Chr8:115412039..115412040 [GRCh38]
Chr8:116424267..116424268 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.-393_-392dup duplication Trichorhinophalangeal syndrome [RCV000381705] Chr8:115668814..115668815 [GRCh38]
Chr8:116681041..116681042 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*4741del deletion Trichorhinophalangeal syndrome [RCV000331116] Chr8:115409282 [GRCh38]
Chr8:116421510 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*4105A>G single nucleotide variant Trichorhinophalangeal Syndrome [RCV000364481] Chr8:115409918 [GRCh38]
Chr8:116422146 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*2882T>C single nucleotide variant Trichorhinophalangeal Syndrome [RCV000293223] Chr8:115411141 [GRCh38]
Chr8:116423369 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*2752_*2754del deletion Trichorhinophalangeal syndrome [RCV000304959] Chr8:115411269..115411271 [GRCh38]
Chr8:116423497..116423499 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*2329A>G single nucleotide variant Trichorhinophalangeal Syndrome [RCV000333340] Chr8:115411694 [GRCh38]
Chr8:116423922 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*2317C>T single nucleotide variant Trichorhinophalangeal Syndrome [RCV000385568] Chr8:115411706 [GRCh38]
Chr8:116423934 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*3268T>C single nucleotide variant Trichorhinophalangeal Syndrome [RCV000319779] Chr8:115410755 [GRCh38]
Chr8:116422983 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.2662G>A (p.Glu888Lys) single nucleotide variant Trichorhinophalangeal Syndrome [RCV000372670] Chr8:115587039 [GRCh38]
Chr8:116599266 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*2405A>G single nucleotide variant Trichorhinophalangeal Syndrome [RCV000372713] Chr8:115411618 [GRCh38]
Chr8:116423846 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*4104G>A single nucleotide variant Trichorhinophalangeal Syndrome [RCV000325064] Chr8:115409919 [GRCh38]
Chr8:116422147 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.-139T>A single nucleotide variant Trichorhinophalangeal Syndrome [RCV000340254] Chr8:115668562 [GRCh38]
Chr8:116680789 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.206A>G (p.His69Arg) single nucleotide variant Trichorhinophalangeal Syndrome [RCV000288648] Chr8:115619892 [GRCh38]
Chr8:116632119 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.-382del deletion Trichorhinophalangeal syndrome [RCV000326767] Chr8:115668805 [GRCh38]
Chr8:116681032 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*522G>T single nucleotide variant Trichorhinophalangeal Syndrome [RCV000376310] Chr8:115413501 [GRCh38]
Chr8:116425729 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.-157G>C single nucleotide variant Trichorhinophalangeal Syndrome [RCV000395513] Chr8:115668580 [GRCh38]
Chr8:116680807 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.*2229G>A single nucleotide variant Trichorhinophalangeal Syndrome [RCV000395615] Chr8:115411794 [GRCh38]
Chr8:116424022 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.-318_-317CT[13] microsatellite Trichorhinophalangeal syndrome [RCV000301200] Chr8:115668717..115668718 [GRCh38]
Chr8:116680944..116680945 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.-487A>C single nucleotide variant Trichorhinophalangeal syndrome [RCV000328169] Chr8:115668910 [GRCh38]
Chr8:116681137 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.-237C>T single nucleotide variant Trichorhinophalangeal Syndrome [RCV000360115] Chr8:115668660 [GRCh38]
Chr8:116680887 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.1088T>G (p.Leu363Ter) single nucleotide variant Inborn genetic diseases [RCV000622769] Chr8:115604881 [GRCh38]
Chr8:116617108 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.478_502dup (p.Lys168fs) duplication not provided [RCV000599179] Chr8:115619595..115619596 [GRCh38]
Chr8:116631822..116631823 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.310C>T (p.Pro104Ser) single nucleotide variant not provided [RCV000593682] Chr8:115619788 [GRCh38]
Chr8:116632015 [GRCh37]
Chr8:8q23.3
conflicting interpretations of pathogenicity|uncertain significance
NM_014112.5(TRPS1):c.2794G>A (p.Ala932Thr) single nucleotide variant Brachydactyly [RCV000415011]|Trichorhinophalangeal dysplasia type I [RCV000505377]|Trichorhinophalangeal syndrome, type III [RCV000695017] Chr8:115418359 [GRCh38]
Chr8:116430587 [GRCh37]
Chr8:8q23.3
pathogenic|likely pathogenic
NM_014112.5(TRPS1):c.2988G>A (p.Arg996=) single nucleotide variant not provided [RCV000728407] Chr8:115414920 [GRCh38]
Chr8:116427148 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.1230G>A (p.Trp410Ter) single nucleotide variant Craniosynostosis syndrome [RCV000414836] Chr8:115604739 [GRCh38]
Chr8:116616966 [GRCh37]
Chr8:8q23.3
likely pathogenic
NM_014112.5(TRPS1):c.1173_1174CT[1] (p.Asn391_Ser392insTer) microsatellite not provided [RCV000728679] Chr8:115604793..115604794 [GRCh38]
Chr8:116617020..116617021 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.1849C>T (p.Pro617Ser) single nucleotide variant not provided [RCV000731903] Chr8:115604120 [GRCh38]
Chr8:116616347 [GRCh37]
Chr8:8q23.3
uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q23.3(chr8:115656140-116918407)x1 copy number loss See cases [RCV000446298] Chr8:115656140..116918407 [GRCh37]
Chr8:8q23.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q23.1-24.12(chr8:107032887-120742018)x1 copy number loss See cases [RCV000448650] Chr8:107032887..120742018 [GRCh37]
Chr8:8q23.1-24.12
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
NM_014112.5(TRPS1):c.3784C>T (p.Gln1262Ter) single nucleotide variant not provided [RCV000481714] Chr8:115414124 [GRCh38]
Chr8:116426352 [GRCh37]
Chr8:8q23.3
likely pathogenic
NM_014112.5(TRPS1):c.2421G>A (p.Trp807Ter) single nucleotide variant not provided [RCV000478832] Chr8:115587280 [GRCh38]
Chr8:116599507 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.2725dup (p.Cys909fs) duplication Langer-Giedion syndrome [RCV000856768]|not provided [RCV000479842] Chr8:115418427..115418428 [GRCh38]
Chr8:116430655..116430656 [GRCh37]
Chr8:8q23.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_014112.5(TRPS1):c.3424del (p.Ser1142fs) deletion Trichorhinophalangeal dysplasia type I [RCV000505275] Chr8:115414484 [GRCh38]
Chr8:116426712 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.2353_2354GA[1] (p.Lys786fs) microsatellite Trichorhinophalangeal dysplasia type I [RCV000505278] Chr8:115587345..115587346 [GRCh38]
Chr8:116599572..116599573 [GRCh37]
Chr8:8q23.3
pathogenic
NG_012383.3:g.(70130_86397)_(87002_255549)dup duplication Trichorhinophalangeal dysplasia type I [RCV000505282] Chr8:115587000..115587605 [GRCh38]
Chr8:116599227..116599832 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.2852_2859dup (p.Gly954fs) duplication Trichorhinophalangeal dysplasia type I [RCV000505283] Chr8:115415048..115415049 [GRCh38]
Chr8:116427276..116427277 [GRCh37]
Chr8:8q23.3
pathogenic
NG_012383.3:g.(87002_255549)_(259980_?)del deletion Trichorhinophalangeal dysplasia type I [RCV000505288] Chr8:115414022..115418453 [GRCh38]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.1105C>T (p.Gln369Ter) single nucleotide variant Trichorhinophalangeal dysplasia type I [RCV000505291] Chr8:115604864 [GRCh38]
Chr8:116617091 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.2756T>C (p.Leu919Pro) single nucleotide variant Trichorhinophalangeal dysplasia type I [RCV000505296] Chr8:115418397 [GRCh38]
Chr8:116430625 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.2824-23T>G single nucleotide variant Trichorhinophalangeal dysplasia type I [RCV000505305] Chr8:115415107 [GRCh38]
Chr8:116427335 [GRCh37]
Chr8:8q23.3
pathogenic
NG_012383.3:g.(70130_86397)_(87002_255549)del deletion Trichorhinophalangeal dysplasia type I [RCV000505311] Chr8:115587000..115587605 [GRCh38]
Chr8:116599227..116599832 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.1460del (p.Lys487fs) deletion Trichorhinophalangeal dysplasia type I [RCV000505313] Chr8:115604509 [GRCh38]
Chr8:116616736 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.2979_2980AG[1] (p.Glu994fs) microsatellite Trichorhinophalangeal dysplasia type I [RCV000505314]|Trichorhinophalangeal syndrome, type III [RCV001228790] Chr8:115414924..115414927 [GRCh38]
Chr8:116427152..116427155 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.1882C>T (p.Gln628Ter) single nucleotide variant Trichorhinophalangeal dysplasia type I [RCV000505317]|not provided [RCV001269908] Chr8:115604087 [GRCh38]
Chr8:116616314 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.2731A>T (p.Asn911Tyr) single nucleotide variant Trichorhinophalangeal dysplasia type I [RCV000505319] Chr8:115418422 [GRCh38]
Chr8:116430650 [GRCh37]
Chr8:8q23.3
pathogenic
inv(8)(q13q24.1) inversion Trichorhinophalangeal dysplasia type I [RCV000505322] Chr8:8q23.3 pathogenic
NM_014112.5(TRPS1):c.2394dup (p.Ser799fs) duplication Trichorhinophalangeal dysplasia type I [RCV000505323] Chr8:115587306..115587307 [GRCh38]
Chr8:116599533..116599534 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.3077del (p.Ser1026fs) deletion Trichorhinophalangeal dysplasia type I [RCV000505326] Chr8:115414831 [GRCh38]
Chr8:116427059 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.1176dup (p.Asn393Ter) duplication Trichorhinophalangeal dysplasia type I [RCV000505335]|not provided [RCV001008729] Chr8:115604792..115604793 [GRCh38]
Chr8:116617019..116617020 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.1010_1014dup (p.Cys339fs) duplication Trichorhinophalangeal dysplasia type I [RCV000505339] Chr8:115604954..115604955 [GRCh38]
Chr8:116617181..116617182 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.2801G>T (p.Gly934Val) single nucleotide variant Trichorhinophalangeal dysplasia type I [RCV000505341] Chr8:115418352 [GRCh38]
Chr8:116430580 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.2761C>T (p.Arg921Ter) single nucleotide variant Trichorhinophalangeal dysplasia type I [RCV000505344]|Trichorhinophalangeal syndrome, type III [RCV000805667]|not provided [RCV001268213] Chr8:115418392 [GRCh38]
Chr8:116430620 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.2783_2784insC (p.Val929fs) insertion Trichorhinophalangeal dysplasia type I [RCV000505345] Chr8:115418369..115418370 [GRCh38]
Chr8:116430597..116430598 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.2094C>A (p.Tyr698Ter) single nucleotide variant Trichorhinophalangeal dysplasia type I [RCV000505350] Chr8:115603875 [GRCh38]
Chr8:116616102 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.4(TRPS1):c.(2823+1_2824-1)_(*1_?)del deletion Trichorhinophalangeal dysplasia type I [RCV000505353] Chr8:115414022..115415085 [GRCh38]
Chr8:116426250..116427313 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.2179_2180del (p.Val727fs) deletion Trichorhinophalangeal dysplasia type I [RCV000505359] Chr8:115587521..115587522 [GRCh38]
Chr8:116599748..116599749 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.2762G>C (p.Arg921Pro) single nucleotide variant Trichorhinophalangeal dysplasia type I [RCV000505360] Chr8:115418391 [GRCh38]
Chr8:116430619 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.2732A>G (p.Asn911Ser) single nucleotide variant Trichorhinophalangeal dysplasia type I [RCV000505363]|Trichorhinophalangeal syndrome, type III [RCV001238156] Chr8:115418421 [GRCh38]
Chr8:116430649 [GRCh37]
Chr8:8q23.3
pathogenic|uncertain significance
NM_014112.5(TRPS1):c.3140del (p.Pro1047fs) deletion Trichorhinophalangeal dysplasia type I [RCV000505369] Chr8:115414768 [GRCh38]
Chr8:116426996 [GRCh37]
Chr8:8q23.3
pathogenic
inv(8)(q21.1q24.1) inversion Trichorhinophalangeal dysplasia type I [RCV000505372] Chr8:8q23.3 pathogenic
NM_014112.5(TRPS1):c.1231dup (p.Gln411fs) duplication Trichorhinophalangeal dysplasia type I [RCV000505380] Chr8:115604737..115604738 [GRCh38]
Chr8:116616964..116616965 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.1093C>T (p.Gln365Ter) single nucleotide variant Trichorhinophalangeal dysplasia type I [RCV000505386] Chr8:115604876 [GRCh38]
Chr8:116617103 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.2823+1G>T single nucleotide variant Trichorhinophalangeal dysplasia type I [RCV000505387] Chr8:115418329 [GRCh38]
Chr8:116430557 [GRCh37]
Chr8:8q23.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
NM_014112.5(TRPS1):c.2195_2204del (p.Gln732fs) deletion Trichorhinophalangeal syndrome, type III [RCV000644427] Chr8:115587497..115587506 [GRCh38]
Chr8:116599724..116599733 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.1649_1650del (p.Gly550fs) deletion Trichorhinophalangeal syndrome, type III [RCV000560398] Chr8:115604319..115604320 [GRCh38]
Chr8:116616546..116616547 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.1043G>T (p.Cys348Phe) single nucleotide variant Trichorhinophalangeal dysplasia type I [RCV000626152] Chr8:115604926 [GRCh38]
Chr8:116617153 [GRCh37]
Chr8:8q23.3
likely pathogenic
NM_014112.5(TRPS1):c.787del (p.Leu263fs) deletion not provided [RCV000514819] Chr8:115619311 [GRCh38]
Chr8:116631538 [GRCh37]
Chr8:8q23.3
likely pathogenic
NM_014112.5(TRPS1):c.2060T>C (p.Ile687Thr) single nucleotide variant not provided [RCV000595410] Chr8:115603909 [GRCh38]
Chr8:116616136 [GRCh37]
Chr8:8q23.3
uncertain significance
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8q23.2-24.12(chr8:111137305-119897611)x1 copy number loss See cases [RCV000512409] Chr8:111137305..119897611 [GRCh37]
Chr8:8q23.2-24.12
pathogenic
NM_014112.4(TRPS1):c.1766dup (p.His590Alafs) duplication not provided [RCV000594729] Chr8:115604202..115604203 [GRCh38]
Chr8:116616429..116616430 [GRCh37]
Chr8:8q23.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
NM_014112.5(TRPS1):c.1700A>G (p.His567Arg) single nucleotide variant not provided [RCV000658239] Chr8:115604269 [GRCh38]
Chr8:116616496 [GRCh37]
Chr8:8q23.3
uncertain significance
GRCh37/hg19 8q23.1-24.13(chr8:110250943-123515785)x1 copy number loss not provided [RCV000683038] Chr8:110250943..123515785 [GRCh37]
Chr8:8q23.1-24.13
pathogenic
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
NM_014112.5(TRPS1):c.1014_1017dup (p.Gln340fs) duplication Trichorhinophalangeal syndrome, type III [RCV000702244] Chr8:115604951..115604952 [GRCh38]
Chr8:116617178..116617179 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.2568T>G (p.Tyr856Ter) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV000688760] Chr8:115587133 [GRCh38]
Chr8:116599360 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.3116T>C (p.Leu1039Pro) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV000706051] Chr8:115414792 [GRCh38]
Chr8:116427020 [GRCh37]
Chr8:8q23.3
uncertain significance
NC_000008.10:g.(?_116426231)_(116635884_?)del deletion Trichorhinophalangeal syndrome, type III [RCV000707989] Chr8:116426231..116635884 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.2086C>T (p.Arg696Ter) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV000696373] Chr8:115603883 [GRCh38]
Chr8:116616110 [GRCh37]
Chr8:8q23.3
pathogenic
NC_000008.10:g.(?_116616080)_(116635884_?)dup duplication Trichorhinophalangeal syndrome, type III [RCV000708380] Chr8:115603853..115623657 [GRCh38]
Chr8:116616080..116635884 [GRCh37]
Chr8:8q23.3
pathogenic|uncertain significance
NM_014112.5(TRPS1):c.1695_1705del (p.Gln565fs) deletion Trichorhinophalangeal syndrome, type III [RCV000696759] Chr8:115604264..115604274 [GRCh38]
Chr8:116616491..116616501 [GRCh37]
Chr8:8q23.3
pathogenic
GRCh37/hg19 8q23.3(chr8:116415097-116502268)x1 copy number loss not provided [RCV000845788] Chr8:116415097..116502268 [GRCh37]
Chr8:8q23.3
pathogenic
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q23.3(chr8:116420327-116648565)x3 copy number gain not provided [RCV000747787] Chr8:116420327..116648565 [GRCh37]
Chr8:8q23.3
benign
NM_014112.5(TRPS1):c.2892_2899dup (p.Asn967fs) duplication Trichorhinophalangeal dysplasia type I [RCV000760984] Chr8:115415008..115415009 [GRCh38]
Chr8:116427236..116427237 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.2110del (p.Cys704fs) deletion Trichorhinophalangeal dysplasia type I [RCV000856759] Chr8:115587591 [GRCh38]
Chr8:116599818 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.1416C>T (p.His472=) single nucleotide variant not provided [RCV000884140] Chr8:115604553 [GRCh38]
Chr8:116616780 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.1164A>G (p.Ser388=) single nucleotide variant not provided [RCV000945436] Chr8:115604805 [GRCh38]
Chr8:116617032 [GRCh37]
Chr8:8q23.3
benign
NM_014112.5(TRPS1):c.3594G>A (p.Thr1198=) single nucleotide variant not provided [RCV000926169] Chr8:115414314 [GRCh38]
Chr8:116426542 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.2487T>A (p.Pro829=) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV000900109] Chr8:115587214 [GRCh38]
Chr8:116599441 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.88G>A (p.Glu30Lys) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV000983819] Chr8:115620010 [GRCh38]
Chr8:116632237 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.1572C>T (p.Ser524=) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV000882285] Chr8:115604397 [GRCh38]
Chr8:116616624 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.1176_1179del (p.Asn393fs) deletion Trichorhinophalangeal syndrome, type III [RCV001041768] Chr8:115604790..115604793 [GRCh38]
Chr8:116617017..116617020 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.2798G>A (p.Cys933Tyr) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV001070625] Chr8:115418355 [GRCh38]
Chr8:116430583 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.816G>A (p.Glu272=) single nucleotide variant not provided [RCV000946380] Chr8:115619282 [GRCh38]
Chr8:116631509 [GRCh37]
Chr8:8q23.3
benign
NM_014112.5(TRPS1):c.1008A>G (p.Thr336=) single nucleotide variant not provided [RCV000921944] Chr8:115604961 [GRCh38]
Chr8:116617188 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.2337_2338GA[3] (p.Lys782fs) microsatellite Trichorhinophalangeal syndrome, type III [RCV000816270] Chr8:115587357..115587358 [GRCh38]
Chr8:116599584..116599585 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.489_492del (p.Glu165fs) deletion Trichorhinophalangeal syndrome, type III [RCV000807601] Chr8:115619606..115619609 [GRCh38]
Chr8:116631833..116631836 [GRCh37]
Chr8:8q23.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_014112.5(TRPS1):c.2700+1G>A single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV000804556] Chr8:115587000 [GRCh38]
Chr8:116599227 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.2641C>T (p.Gln881Ter) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV000812162] Chr8:115587060 [GRCh38]
Chr8:116599287 [GRCh37]
Chr8:8q23.3
pathogenic
GRCh37/hg19 8q23.3(chr8:116515769-116541758)x1 copy number loss not provided [RCV001006132] Chr8:116515769..116541758 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.3698G>A (p.Cys1233Tyr) single nucleotide variant Trichorhinophalangeal dysplasia type I [RCV000786782] Chr8:115414210 [GRCh38]
Chr8:116426438 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.2503G>A (p.Glu835Lys) single nucleotide variant not specified [RCV000785127] Chr8:115587198 [GRCh38]
Chr8:116599425 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.2880del (p.Arg961fs) deletion Trichorhinophalangeal syndrome, type III [RCV000818157] Chr8:115415028 [GRCh38]
Chr8:116427256 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.2755C>G (p.Leu919Val) single nucleotide variant not provided [RCV000999062] Chr8:115418398 [GRCh38]
Chr8:116430626 [GRCh37]
Chr8:8q23.3
likely pathogenic
NM_014112.5(TRPS1):c.1427dup (p.Ser477fs) duplication Trichorhinophalangeal syndrome, type III [RCV001203085] Chr8:115604541..115604542 [GRCh38]
Chr8:116616768..116616769 [GRCh37]
Chr8:8q23.3
pathogenic
GRCh37/hg19 8q23.2-24.13(chr8:111514791-123192373)x1 copy number loss not provided [RCV001006131] Chr8:111514791..123192373 [GRCh37]
Chr8:8q23.2-24.13
pathogenic
NM_014112.5(TRPS1):c.2803C>T (p.Leu935Phe) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV001209612] Chr8:115418350 [GRCh38]
Chr8:116430578 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.2666del (p.Asn889fs) deletion Trichorhinophalangeal dysplasia type I [RCV000853357] Chr8:115587035 [GRCh38]
Chr8:116599262 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.355A>T (p.Thr119Ser) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV000952160] Chr8:115619743 [GRCh38]
Chr8:116631970 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.471A>C (p.Ser157=) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV000907881] Chr8:115619627 [GRCh38]
Chr8:116631854 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.1869G>T (p.Ser623=) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV000953862] Chr8:115604100 [GRCh38]
Chr8:116616327 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.2645A>G (p.Gln882Arg) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV000954029] Chr8:115587056 [GRCh38]
Chr8:116599283 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.3399C>T (p.Ser1133=) single nucleotide variant not provided [RCV000952034] Chr8:115414509 [GRCh38]
Chr8:116426737 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.3051C>T (p.Tyr1017=) single nucleotide variant not provided [RCV000952035] Chr8:115414857 [GRCh38]
Chr8:116427085 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.3515A>G (p.Asp1172Gly) single nucleotide variant Trichorhinophalangeal dysplasia type I [RCV001199334] Chr8:115414393 [GRCh38]
Chr8:116426621 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.275T>C (p.Val92Ala) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV001041767] Chr8:115619823 [GRCh38]
Chr8:116632050 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.2788T>C (p.Cys930Arg) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV001245298] Chr8:115418365 [GRCh38]
Chr8:116430593 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.2586C>G (p.Thr862=) single nucleotide variant not provided [RCV000933824] Chr8:115587115 [GRCh38]
Chr8:116599342 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.1541G>T (p.Ser514Ile) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV000889202] Chr8:115604428 [GRCh38]
Chr8:116616655 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.2470C>T (p.Leu824=) single nucleotide variant not provided [RCV000889237] Chr8:115587231 [GRCh38]
Chr8:116599458 [GRCh37]
Chr8:8q23.3
likely benign
NM_014112.5(TRPS1):c.2654C>T (p.Ala885Val) single nucleotide variant Microcephaly [RCV001252777] Chr8:115587047 [GRCh38]
Chr8:116599274 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.2891A>C (p.Lys964Thr) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV001047842] Chr8:115415017 [GRCh38]
Chr8:116427245 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.3866dup (p.Asn1289fs) duplication Trichorhinophalangeal syndrome, type III [RCV001036958] Chr8:115414041..115414042 [GRCh38]
Chr8:116426269..116426270 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.2769T>G (p.Asn923Lys) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV001045613] Chr8:115418384 [GRCh38]
Chr8:116430612 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.2956_2960dup (p.Val988fs) duplication Trichorhinophalangeal syndrome, type III [RCV001050049] Chr8:115414947..115414948 [GRCh38]
Chr8:116427175..116427176 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.2788T>G (p.Cys930Gly) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV001058818] Chr8:115418365 [GRCh38]
Chr8:116430593 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.3736C>T (p.His1246Tyr) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV001214916] Chr8:115414172 [GRCh38]
Chr8:116426400 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.1464_1474del (p.Ser489fs) deletion Trichorhinophalangeal dysplasia type I [RCV001248816] Chr8:115604495..115604505 [GRCh38]
Chr8:116616722..116616732 [GRCh37]
Chr8:8q23.3
likely pathogenic
NM_014112.5(TRPS1):c.3461dup (p.Tyr1154Ter) duplication Trichorhinophalangeal syndrome, type III [RCV001207948] Chr8:115414446..115414447 [GRCh38]
Chr8:116426674..116426675 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.1892A>G (p.Gln631Arg) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV001215336] Chr8:115604077 [GRCh38]
Chr8:116616304 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.1180A>T (p.Lys394Ter) single nucleotide variant Trichorhinophalangeal syndrome, type III [RCV001219518] Chr8:115604789 [GRCh38]
Chr8:116617016 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.2758T>C (p.Trp920Arg) single nucleotide variant not provided [RCV001200485] Chr8:115418395 [GRCh38]
Chr8:116430623 [GRCh37]
Chr8:8q23.3
uncertain significance
NC_000008.11:g.(?_115586981)_(115587624_?)del deletion Trichorhinophalangeal syndrome, type III [RCV001031776] Chr8:116599208..116599851 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.1919_2096+2929del deletion Trichorhinophalangeal syndrome, type III [RCV001228919] Chr8:115600944..115604050 [GRCh38]
Chr8:116613171..116616277 [GRCh37]
Chr8:8q23.3
likely pathogenic
NM_014112.5(TRPS1):c.3263C>G (p.Ala1088Gly) single nucleotide variant Microcephaly [RCV001252763] Chr8:115414645 [GRCh38]
Chr8:116426873 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.263T>G (p.Leu88Trp) single nucleotide variant Microcephaly [RCV001252870] Chr8:115619835 [GRCh38]
Chr8:116632062 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.2601G>T (p.Gln867His) single nucleotide variant Cornelia de Lange syndrome 4 [RCV001253155] Chr8:115587100 [GRCh38]
Chr8:116599327 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.3527dup (p.Leu1177fs) duplication Inborn genetic diseases [RCV001266789] Chr8:115414380..115414381 [GRCh38]
Chr8:116426608..116426609 [GRCh37]
Chr8:8q23.3
pathogenic
GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3 copy number gain not provided [RCV001259025] Chr8:108421573..123429638 [GRCh37]
Chr8:8q23.1-24.13
pathogenic
GRCh37/hg19 8q23.3(chr8:116104969-116678186)x3 copy number gain not provided [RCV001259027] Chr8:116104969..116678186 [GRCh37]
Chr8:8q23.3
uncertain significance
NM_014112.5(TRPS1):c.94C>T (p.Gln32Ter) single nucleotide variant Trichorhinophalangeal dysplasia type I [RCV001293675] Chr8:115620004 [GRCh38]
Chr8:116632231 [GRCh37]
Chr8:8q23.3
likely pathogenic
NM_014112.5(TRPS1):c.3062del (p.Gly1021fs) deletion Trichorhinophalangeal dysplasia type I [RCV001261443] Chr8:115414846 [GRCh38]
Chr8:116427074 [GRCh37]
Chr8:8q23.3
likely pathogenic
NM_014112.5(TRPS1):c.3203dup (p.Ser1069fs) duplication Inborn genetic diseases [RCV001267427] Chr8:115414704..115414705 [GRCh38]
Chr8:116426932..116426933 [GRCh37]
Chr8:8q23.3
pathogenic
NM_014112.5(TRPS1):c.1817C>T (p.Ser606Phe) single nucleotide variant Trichorhinophalangeal dysplasia type I [RCV001260904] Chr8:115604152 [GRCh38]
Chr8:116616379 [GRCh37]
Chr8:8q23.3
likely pathogenic
NM_014112.5(TRPS1):c.3350T>C (p.Phe1117Ser) single nucleotide variant Trichorhinophalangeal dysplasia type I [RCV001328714] Chr8:115414558 [GRCh38]
Chr8:116426786 [GRCh37]
Chr8:8q23.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12340 AgrOrtholog
COSMIC TRPS1 COSMIC
Ensembl Genes ENSG00000104447 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000220888 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000379063 UniProtKB/TrEMBL
  ENSP00000379065 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000400360 UniProtKB/TrEMBL
  ENSP00000405028 UniProtKB/TrEMBL
  ENSP00000428121 UniProtKB/TrEMBL
  ENSP00000428680 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428910 UniProtKB/TrEMBL
  ENSP00000429174 UniProtKB/TrEMBL
  ENSP00000430383 UniProtKB/TrEMBL
  ENSP00000430803 UniProtKB/TrEMBL
  ENSP00000492037 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000220888 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000395713 UniProtKB/TrEMBL
  ENST00000395715 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000422939 UniProtKB/TrEMBL
  ENST00000451156 UniProtKB/TrEMBL
  ENST00000517323 UniProtKB/TrEMBL
  ENST00000518018 UniProtKB/TrEMBL
  ENST00000519076 UniProtKB/TrEMBL
  ENST00000519674 UniProtKB/TrEMBL
  ENST00000519815 UniProtKB/TrEMBL
  ENST00000520276 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000640765 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.50.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000104447 GTEx
HGNC ID HGNC:12340 ENTREZGENE
Human Proteome Map TRPS1 Human Proteome Map
InterPro TRPS1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_GATA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_NHR/GATA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7227 UniProtKB/Swiss-Prot
NCBI Gene 7227 ENTREZGENE
OMIM 190350 OMIM
  190351 OMIM
  604386 OMIM
PANTHER PTHR47034 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam GATA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37013 PharmGKB
PRINTS GATAZNFINGER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE GATA_ZN_FINGER_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GATA_ZN_FINGER_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ZnF_C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_GATA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1D5RMP4_HUMAN UniProtKB/TrEMBL
  C9J6L7_HUMAN UniProtKB/TrEMBL
  E5RFF3_HUMAN UniProtKB/TrEMBL
  E5RJ97_HUMAN UniProtKB/TrEMBL
  E7EVN4_HUMAN UniProtKB/TrEMBL
  F8W8T0_HUMAN UniProtKB/TrEMBL
  H0YAV4_HUMAN UniProtKB/TrEMBL
  H0YC29_HUMAN UniProtKB/TrEMBL
  Q9UHF7 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B4E1Z5 UniProtKB/Swiss-Prot
  Q08AU2 UniProtKB/Swiss-Prot
  Q9NWE1 UniProtKB/Swiss-Prot
  Q9UHH6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-18 TRPS1  transcriptional repressor GATA binding 1  TRPS1  trichorhinophalangeal syndrome I  Symbol and/or name change 5135510 APPROVED