RAX (retina and anterior neural fold homeobox) - Rat Genome Database

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Gene: RAX (retina and anterior neural fold homeobox) Homo sapiens
Analyze
Symbol: RAX
Name: retina and anterior neural fold homeobox
RGD ID: 1606797
HGNC Page HGNC:18662
Description: Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. Predicted to be part of chromatin. Implicated in isolated microphthalmia 3.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MCOP3; MCOPS16; RAX1; retina and anterior neural fold homeobox protein; retinal homeobox protein Rx; RX
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
GRCh381859,267,038 - 59,273,454 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1859,267,035 - 59,274,086 (-)EnsemblGRCh38hg38GRCh38
GRCh371856,934,270 - 56,940,686 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361855,085,247 - 55,091,605 (-)NCBINCBI36Build 36hg18NCBI36
Celera1853,652,123 - 53,658,480 (-)NCBICelera
Cytogenetic Map18q21.32NCBI
HuRef1853,643,456 - 53,649,718 (-)NCBIHuRef
CHM1_11856,929,439 - 56,935,862 (-)NCBICHM1_1
T2T-CHM13v2.01859,468,558 - 59,474,973 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9177348   PMID:10625658   PMID:10766016   PMID:11069920   PMID:12477932   PMID:14662654   PMID:19158959   PMID:19274049   PMID:19397404   PMID:20057906   PMID:20301552   PMID:20494911  
PMID:21697133   PMID:21873635   PMID:22558175   PMID:22736936   PMID:28473536   PMID:28831107   PMID:33961781   PMID:34348662  


Genomics

Comparative Map Data
RAX
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381859,267,038 - 59,273,454 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1859,267,035 - 59,274,086 (-)EnsemblGRCh38hg38GRCh38
GRCh371856,934,270 - 56,940,686 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361855,085,247 - 55,091,605 (-)NCBINCBI36Build 36hg18NCBI36
Celera1853,652,123 - 53,658,480 (-)NCBICelera
Cytogenetic Map18q21.32NCBI
HuRef1853,643,456 - 53,649,718 (-)NCBIHuRef
CHM1_11856,929,439 - 56,935,862 (-)NCBICHM1_1
T2T-CHM13v2.01859,468,558 - 59,474,973 (-)NCBIT2T-CHM13v2.0
Rax
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391866,067,710 - 66,072,160 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1866,061,348 - 66,072,858 (-)EnsemblGRCm39 Ensembl
GRCm381865,934,639 - 65,939,089 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1865,928,277 - 65,939,787 (-)EnsemblGRCm38mm10GRCm38
MGSCv371866,094,293 - 66,098,743 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361866,060,005 - 66,064,442 (-)NCBIMGSCv36mm8
Celera1867,210,139 - 67,214,590 (-)NCBICelera
Cytogenetic Map18E1NCBI
cM Map1839.03NCBI
Rax
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81861,733,322 - 61,737,444 (-)NCBIGRCr8
mRatBN7.21859,463,347 - 59,467,469 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1859,463,737 - 59,467,431 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1861,557,510 - 61,561,206 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01862,256,193 - 62,259,889 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01860,084,163 - 60,087,857 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01861,638,352 - 61,642,056 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1861,638,352 - 61,642,056 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01860,835,143 - 60,838,847 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41862,567,485 - 62,571,191 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11862,640,685 - 62,644,392 (+)NCBI
Celera1857,585,618 - 57,589,312 (-)NCBICelera
Cytogenetic Map18q12.1NCBI
Rax
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540243,410,404 - 43,414,306 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540243,408,933 - 43,414,697 (-)NCBIChiLan1.0ChiLan1.0
RAX
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21776,813,222 - 76,819,634 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11862,505,836 - 62,512,248 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01852,664,243 - 52,669,177 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11855,990,984 - 55,995,469 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1855,990,984 - 55,995,469 (-)Ensemblpanpan1.1panPan2
RAX
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1116,940,671 - 16,945,127 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl116,940,658 - 16,943,633 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha117,915,783 - 17,920,202 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0116,817,416 - 16,821,898 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl116,817,416 - 16,821,898 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1116,853,025 - 16,857,444 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0116,773,789 - 16,778,200 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0117,035,324 - 17,039,744 (+)NCBIUU_Cfam_GSD_1.0
Rax
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494430,212,492 - 30,218,299 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364975,452,800 - 5,456,905 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364975,451,055 - 5,457,334 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RAX
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1161,678,955 - 161,683,060 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11161,679,154 - 161,683,486 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21179,257,056 - 179,260,894 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RAX
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11820,464,417 - 20,469,281 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1820,464,657 - 20,468,812 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660605,117,972 - 5,124,458 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rax
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247924,652,493 - 4,656,826 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247924,652,430 - 4,657,048 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RAX
138 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_013435.3(RAX):c.664del (p.Ser222fs) deletion Isolated microphthalmia 3 [RCV000008076] Chr18:59269381 [GRCh38]
Chr18:56936613 [GRCh37]
Chr18:18q21.32
pathogenic
NM_013435.3(RAX):c.439C>T (p.Gln147Ter) single nucleotide variant Isolated microphthalmia 3 [RCV000008074] Chr18:59272465 [GRCh38]
Chr18:56939697 [GRCh37]
Chr18:18q21.32
pathogenic
NM_013435.3(RAX):c.575G>A (p.Arg192Gln) single nucleotide variant Isolated microphthalmia 3 [RCV000008075] Chr18:59269470 [GRCh38]
Chr18:56936702 [GRCh37]
Chr18:18q21.32
pathogenic
NM_013435.3(RAX):c.909C>G (p.Tyr303Ter) single nucleotide variant Isolated microphthalmia 3 [RCV000008077] Chr18:59269136 [GRCh38]
Chr18:56936368 [GRCh37]
Chr18:18q21.32
pathogenic
GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3 copy number gain See cases [RCV000050989] Chr18:50068129..80252149 [GRCh38]
Chr18:47594499..78010032 [GRCh37]
Chr18:45848497..76111023 [NCBI36]
Chr18:18q21.1-23
pathogenic
GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1 copy number loss See cases [RCV000051032] Chr18:56618038..80252149 [GRCh38]
Chr18:54285269..78010032 [GRCh37]
Chr18:52436267..76111023 [NCBI36]
Chr18:18q21.31-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] Chr18:29249202..65448117 [GRCh38]
Chr18:26829167..63115353 [GRCh37]
Chr18:25083165..61266333 [NCBI36]
Chr18:18q12.1-22.1
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:53637007-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|See cases [RCV000053869] Chr18:53637007..80252149 [GRCh38]
Chr18:51163377..78010032 [GRCh37]
Chr18:49417375..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1 copy number loss See cases [RCV000053873] Chr18:56353040..80209986 [GRCh38]
Chr18:54020271..77967869 [GRCh37]
Chr18:52171269..76068860 [NCBI36]
Chr18:18q21.31-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:51605752-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|See cases [RCV000053834] Chr18:51605752..80252149 [GRCh38]
Chr18:49132122..78010032 [GRCh37]
Chr18:47386120..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1 copy number loss See cases [RCV000053836] Chr18:52156899..65408762 [GRCh38]
Chr18:49683269..63075998 [GRCh37]
Chr18:47937267..61226978 [NCBI36]
Chr18:18q21.2-22.1
pathogenic
NM_013435.3(RAX):c.290-1G>A single nucleotide variant Microphthalmia, isolated 3 [RCV001294112] Chr18:59272615 [GRCh38]
Chr18:56939847 [GRCh37]
Chr18:18q21.32
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1 copy number loss See cases [RCV000135413] Chr18:51190429..80252149 [GRCh38]
Chr18:48716799..78010032 [GRCh37]
Chr18:46970797..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.2-21.32(chr18:54857756-60590631)x1 copy number loss See cases [RCV000136501] Chr18:54857756..60590631 [GRCh38]
Chr18:52524987..58257864 [GRCh37]
Chr18:50675985..56408844 [NCBI36]
Chr18:18q21.2-21.32
pathogenic
GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3 copy number gain See cases [RCV000136910] Chr18:38794728..65632804 [GRCh38]
Chr18:36374692..63300040 [GRCh37]
Chr18:34628690..61451020 [NCBI36]
Chr18:18q12.2-22.1
pathogenic
GRCh38/hg38 18q21.32(chr18:58939804-59720672)x3 copy number gain See cases [RCV000136915] Chr18:58939804..59720672 [GRCh38]
Chr18:56607036..57387904 [GRCh37]
Chr18:54758016..55538884 [NCBI36]
Chr18:18q21.32
uncertain significance
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1 copy number loss See cases [RCV000136674] Chr18:53865057..80252149 [GRCh38]
Chr18:51391427..78010032 [GRCh37]
Chr18:49645425..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3 copy number gain See cases [RCV000137342] Chr18:49199411..80254946 [GRCh38]
Chr18:46725781..78012829 [GRCh37]
Chr18:44979779..76113817 [NCBI36]
Chr18:18q21.1-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1 copy number loss See cases [RCV000137375] Chr18:55179364..80254946 [GRCh38]
Chr18:52846595..78012829 [GRCh37]
Chr18:50997593..76113817 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 copy number gain See cases [RCV000138034] Chr18:42651392..80254946 [GRCh38]
Chr18:40231357..78012829 [GRCh37]
Chr18:38485355..76113817 [NCBI36]
Chr18:18q12.3-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23
pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1 copy number loss See cases [RCV000139134] Chr18:52421052..80254946 [GRCh38]
Chr18:49947422..78012829 [GRCh37]
Chr18:48201420..76113817 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3 copy number gain See cases [RCV000139496] Chr18:53959828..80254936 [GRCh38]
Chr18:51486198..78012819 [GRCh37]
Chr18:49740196..76113807 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1 copy number loss See cases [RCV000140925] Chr18:51167159..80256240 [GRCh38]
Chr18:48693529..78014123 [GRCh37]
Chr18:46947527..76115097 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 copy number gain See cases [RCV000142227] Chr18:40367455..80256240 [GRCh38]
Chr18:37947419..78014123 [GRCh37]
Chr18:36201417..76115097 [NCBI36]
Chr18:18q12.3-23
pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NM_013435.3(RAX):c.882A>G (p.Gln294=) single nucleotide variant Isolated microphthalmia 3 [RCV000303566]|not provided [RCV001610685]|not specified [RCV000249691] Chr18:59269163 [GRCh38]
Chr18:56936395 [GRCh37]
Chr18:18q21.32
benign|likely benign
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23
pathogenic
NM_013435.3(RAX):c.132C>A (p.Asp44Glu) single nucleotide variant Isolated microphthalmia 3 [RCV000333220]|not provided [RCV001711568]|not specified [RCV000245147] Chr18:59273075 [GRCh38]
Chr18:56940307 [GRCh37]
Chr18:18q21.32
benign|likely benign
NM_013435.3(RAX):c.745C>T (p.Leu249=) single nucleotide variant Isolated microphthalmia 3 [RCV000263629] Chr18:59269300 [GRCh38]
Chr18:56936532 [GRCh37]
Chr18:18q21.32
likely benign|uncertain significance
NM_013435.3(RAX):c.*1878T>C single nucleotide variant Isolated microphthalmia 3 [RCV000391755] Chr18:59267126 [GRCh38]
Chr18:56934358 [GRCh37]
Chr18:18q21.32
likely benign
NM_013435.3(RAX):c.166G>A (p.Gly56Ser) single nucleotide variant Isolated microphthalmia 3 [RCV000259362] Chr18:59273041 [GRCh38]
Chr18:56940273 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*1361G>A single nucleotide variant Isolated microphthalmia 3 [RCV000320767] Chr18:59267643 [GRCh38]
Chr18:56934875 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*1437G>T single nucleotide variant Isolated microphthalmia 3 [RCV000367090] Chr18:59267567 [GRCh38]
Chr18:56934799 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*120C>G single nucleotide variant Isolated microphthalmia 3 [RCV000361743] Chr18:59268884 [GRCh38]
Chr18:56936116 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*1373del deletion Anophthalmia-microphthalmia syndrome [RCV000363673] Chr18:59267631 [GRCh38]
Chr18:56934863 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*1389C>G single nucleotide variant Isolated microphthalmia 3 [RCV000272528] Chr18:59267615 [GRCh38]
Chr18:56934847 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*1272G>A single nucleotide variant Isolated microphthalmia 3 [RCV000371751] Chr18:59267732 [GRCh38]
Chr18:56934964 [GRCh37]
Chr18:18q21.32
likely benign
NM_013435.3(RAX):c.*1319C>T single nucleotide variant Isolated microphthalmia 3 [RCV000280948] Chr18:59267685 [GRCh38]
Chr18:56934917 [GRCh37]
Chr18:18q21.32
likely benign
NM_013435.3(RAX):c.*1817A>G single nucleotide variant Isolated microphthalmia 3 [RCV000282218] Chr18:59267187 [GRCh38]
Chr18:56934419 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*236C>T single nucleotide variant Isolated microphthalmia 3 [RCV000306862]|not provided [RCV001643018] Chr18:59268768 [GRCh38]
Chr18:56936000 [GRCh37]
Chr18:18q21.32
benign|likely benign
NM_013435.3(RAX):c.*908T>C single nucleotide variant Isolated microphthalmia 3 [RCV000350939] Chr18:59268096 [GRCh38]
Chr18:56935328 [GRCh37]
Chr18:18q21.32
likely benign
NM_013435.3(RAX):c.*1371_*1372del deletion Anophthalmia-microphthalmia syndrome [RCV000323855] Chr18:59267632..59267633 [GRCh38]
Chr18:56934864..56934865 [GRCh37]
Chr18:18q21.32
likely benign
NM_013435.3(RAX):c.*376C>T single nucleotide variant Isolated microphthalmia 3 [RCV000310452] Chr18:59268628 [GRCh38]
Chr18:56935860 [GRCh37]
Chr18:18q21.32
likely benign
NM_013435.3(RAX):c.*291C>T single nucleotide variant Isolated microphthalmia 3 [RCV000404476]|not provided [RCV001594958] Chr18:59268713 [GRCh38]
Chr18:56935945 [GRCh37]
Chr18:18q21.32
benign|likely benign
NM_013435.3(RAX):c.*1746G>A single nucleotide variant Isolated microphthalmia 3 [RCV000391727] Chr18:59267258 [GRCh38]
Chr18:56934490 [GRCh37]
Chr18:18q21.32
benign|likely benign
NM_013435.3(RAX):c.*1516G>C single nucleotide variant Isolated microphthalmia 3 [RCV000312889] Chr18:59267488 [GRCh38]
Chr18:56934720 [GRCh37]
Chr18:18q21.32
likely benign|uncertain significance
NM_013435.3(RAX):c.*1300A>G single nucleotide variant Isolated microphthalmia 3 [RCV000335961] Chr18:59267704 [GRCh38]
Chr18:56934936 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*917C>T single nucleotide variant Isolated microphthalmia 3 [RCV000295991] Chr18:59268087 [GRCh38]
Chr18:56935319 [GRCh37]
Chr18:18q21.32
likely benign
NM_013435.3(RAX):c.*1737C>A single nucleotide variant Isolated microphthalmia 3 [RCV000297653] Chr18:59267267 [GRCh38]
Chr18:56934499 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*1525G>A single nucleotide variant Isolated microphthalmia 3 [RCV000402903] Chr18:59267479 [GRCh38]
Chr18:56934711 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*1362G>C single nucleotide variant Isolated microphthalmia 3 [RCV000265159] Chr18:59267642 [GRCh38]
Chr18:56934874 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.544-11C>G single nucleotide variant Isolated microphthalmia 3 [RCV000318846] Chr18:59269512 [GRCh38]
Chr18:56936744 [GRCh37]
Chr18:18q21.32
conflicting interpretations of pathogenicity|uncertain significance
NM_013435.3(RAX):c.922G>A (p.Gly308Ser) single nucleotide variant Isolated microphthalmia 3 [RCV000267034] Chr18:59269123 [GRCh38]
Chr18:56936355 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*850C>T single nucleotide variant Isolated microphthalmia 3 [RCV000408126] Chr18:59268154 [GRCh38]
Chr18:56935386 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*1372del deletion Anophthalmia-microphthalmia syndrome [RCV000268774] Chr18:59267632 [GRCh38]
Chr18:56934864 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*328A>G single nucleotide variant Isolated microphthalmia 3 [RCV000346539] Chr18:59268676 [GRCh38]
Chr18:56935908 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.-104C>T single nucleotide variant Isolated microphthalmia 3 [RCV000293323] Chr18:59273310 [GRCh38]
Chr18:56940542 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.118G>C (p.Gly40Arg) single nucleotide variant Isolated microphthalmia 3 [RCV000387698] Chr18:59273089 [GRCh38]
Chr18:56940321 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*1756C>A single nucleotide variant Isolated microphthalmia 3 [RCV000337231] Chr18:59267248 [GRCh38]
Chr18:56934480 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*1547G>T single nucleotide variant Isolated microphthalmia 3 [RCV000352532] Chr18:59267457 [GRCh38]
Chr18:56934689 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*1373_*1374del deletion Anophthalmia-microphthalmia syndrome [RCV000308953] Chr18:59267630..59267631 [GRCh38]
Chr18:56934862..56934863 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.173G>C (p.Arg58Pro) single nucleotide variant Isolated microphthalmia 3 [RCV000373550] Chr18:59273034 [GRCh38]
Chr18:56940266 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*1358del deletion Anophthalmia-microphthalmia syndrome [RCV000375438] Chr18:59267646 [GRCh38]
Chr18:56934878 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.835C>G (p.Pro279Ala) single nucleotide variant Isolated microphthalmia 3 [RCV000358332] Chr18:59269210 [GRCh38]
Chr18:56936442 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*1365G>T single nucleotide variant Isolated microphthalmia 3 [RCV000378406] Chr18:59267639 [GRCh38]
Chr18:56934871 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.262_263delinsA (p.Ala88fs) indel not provided [RCV000598975] Chr18:59272944..59272945 [GRCh38]
Chr18:56940176..56940177 [GRCh37]
Chr18:18q21.32
likely pathogenic
GRCh37/hg19 18q21.31-22.3(chr18:55793243-68705548)x1 copy number loss See cases [RCV000449209] Chr18:55793243..68705548 [GRCh37]
Chr18:18q21.31-22.3
pathogenic
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988)x1 copy number loss See cases [RCV000446087] Chr18:50739715..63705988 [GRCh37]
Chr18:18q21.2-22.1
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1 copy number loss See cases [RCV000510720] Chr18:50224898..78014123 [GRCh37]
Chr18:18q21.2-23
likely pathogenic
GRCh37/hg19 18q21.32(chr18:56589023-57506331)x3 copy number gain See cases [RCV000445786] Chr18:56589023..57506331 [GRCh37]
Chr18:18q21.32
uncertain significance
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)x1 copy number loss See cases [RCV000445943] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)x1 copy number loss See cases [RCV000447931] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)x1 copy number loss See cases [RCV000448656] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.31-23(chr18:54462182-78014123)x1 copy number loss See cases [RCV000512059] Chr18:54462182..78014123 [GRCh37]
Chr18:18q21.31-23
pathogenic
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 copy number gain See cases [RCV000512081] Chr18:33417216..78014123 [GRCh37]
Chr18:18q12.2-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3 copy number gain See cases [RCV000510655] Chr18:47454437..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 copy number gain See cases [RCV000511394] Chr18:43776770..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1
pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1 copy number loss See cases [RCV000511759] Chr18:46177798..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 copy number gain See cases [RCV000511203] Chr18:42930373..78014123 [GRCh37]
Chr18:18q12.3-23
pathogenic
GRCh37/hg19 18q21.32(chr18:56623382-57545665)x3 copy number gain See cases [RCV000511151] Chr18:56623382..57545665 [GRCh37]
Chr18:18q21.32
uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NM_013435.3(RAX):c.867G>C (p.Leu289Phe) single nucleotide variant Inborn genetic diseases [RCV003255792] Chr18:59269178 [GRCh38]
Chr18:56936410 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.729C>A (p.Ser243=) single nucleotide variant Isolated microphthalmia 3 [RCV000529186] Chr18:59269316 [GRCh38]
Chr18:56936548 [GRCh37]
Chr18:18q21.32
likely benign
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23
pathogenic
NM_013435.3(RAX):c.197G>C (p.Arg66Thr) single nucleotide variant Isolated microphthalmia 3 [RCV001085134]|not provided [RCV000597146] Chr18:59273010 [GRCh38]
Chr18:56940242 [GRCh37]
Chr18:18q21.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 18q21.31-22.3(chr18:55083032-72743857)x1 copy number loss not provided [RCV000684056] Chr18:55083032..72743857 [GRCh37]
Chr18:18q21.31-22.3
pathogenic
GRCh37/hg19 18q21.32-23(chr18:56905884-78014123)x1 copy number loss not provided [RCV000684058] Chr18:56905884..78014123 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q21.31-23(chr18:55298900-78014123)x1 copy number loss not provided [RCV000684059] Chr18:55298900..78014123 [GRCh37]
Chr18:18q21.31-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1 copy number loss not provided [RCV000684060] Chr18:46942427..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q21.32(chr18:56590414-57506331)x3 copy number gain not provided [RCV000684015] Chr18:56590414..57506331 [GRCh37]
Chr18:18q21.32
uncertain significance
GRCh37/hg19 18q21.2-21.33(chr18:51036415-59275480)x1 copy number loss not provided [RCV000739822] Chr18:51036415..59275480 [GRCh37]
Chr18:18q21.2-21.33
pathogenic
GRCh37/hg19 18q21.2-23(chr18:52802515-78015180)x1 copy number loss not provided [RCV000739824] Chr18:52802515..78015180 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NM_013435.3(RAX):c.639C>T (p.Ser213=) single nucleotide variant not provided [RCV000903350] Chr18:59269406 [GRCh38]
Chr18:56936638 [GRCh37]
Chr18:18q21.32
likely benign
NM_013435.3(RAX):c.24A>G (p.Pro8=) single nucleotide variant Isolated microphthalmia 3 [RCV000946039]|not provided [RCV001593140] Chr18:59273183 [GRCh38]
Chr18:56940415 [GRCh37]
Chr18:18q21.32
likely benign|conflicting interpretations of pathogenicity
NM_013435.3(RAX):c.289+8C>G single nucleotide variant Isolated microphthalmia 3 [RCV000878185]|not provided [RCV002285427] Chr18:59272910 [GRCh38]
Chr18:56940142 [GRCh37]
Chr18:18q21.32
benign|likely benign
NM_013435.3(RAX):c.339A>C (p.Pro113=) single nucleotide variant not provided [RCV000949196] Chr18:59272565 [GRCh38]
Chr18:56939797 [GRCh37]
Chr18:18q21.32
likely benign
NM_013435.3(RAX):c.516G>A (p.Lys172=) single nucleotide variant Isolated microphthalmia 3 [RCV000878051] Chr18:59272388 [GRCh38]
Chr18:56939620 [GRCh37]
Chr18:18q21.32
likely benign
NM_013435.3(RAX):c.768G>C (p.Ala256=) single nucleotide variant not provided [RCV000898105] Chr18:59269277 [GRCh38]
Chr18:56936509 [GRCh37]
Chr18:18q21.32
likely benign
NM_013435.3(RAX):c.405G>A (p.Lys135=) single nucleotide variant not provided [RCV000921454] Chr18:59272499 [GRCh38]
Chr18:56939731 [GRCh37]
Chr18:18q21.32
likely benign
GRCh37/hg19 18q21.31-23(chr18:55458425-78014123)x1 copy number loss not provided [RCV001007017] Chr18:55458425..78014123 [GRCh37]
Chr18:18q21.31-23
pathogenic
NC_000018.9:g.(?_55225777)_(56940458_?)dup duplication not provided [RCV000821281] Chr18:57558545..59273226 [GRCh38]
Chr18:55225777..56940458 [GRCh37]
Chr18:18q21.31-21.32
uncertain significance
NM_013435.3(RAX):c.290-4C>A single nucleotide variant Isolated microphthalmia 3 [RCV000945429]|not provided [RCV001796822]|not specified [RCV001796317] Chr18:59272618 [GRCh38]
Chr18:56939850 [GRCh37]
Chr18:18q21.32
benign|likely benign|conflicting interpretations of pathogenicity
NM_013435.3(RAX):c.289+9G>C single nucleotide variant not provided [RCV000896675] Chr18:59272909 [GRCh38]
Chr18:56940141 [GRCh37]
Chr18:18q21.32
likely benign
NM_013435.3(RAX):c.697G>T (p.Gly233Trp) single nucleotide variant Isolated microphthalmia 3 [RCV000799245] Chr18:59269348 [GRCh38]
Chr18:56936580 [GRCh37]
Chr18:18q21.32
uncertain significance
GRCh37/hg19 18q21.32-23(chr18:56750525-78014123)x1 copy number loss not provided [RCV001007018] Chr18:56750525..78014123 [GRCh37]
Chr18:18q21.32-23
pathogenic
NM_013435.3(RAX):c.135C>T (p.Asp45=) single nucleotide variant not provided [RCV000919085] Chr18:59273072 [GRCh38]
Chr18:56940304 [GRCh37]
Chr18:18q21.32
likely benign
GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3 copy number gain not provided [RCV000847118] Chr18:45621155..61416536 [GRCh37]
Chr18:18q21.1-21.33
pathogenic
NM_013435.3(RAX):c.106G>T (p.Glu36Ter) single nucleotide variant not provided [RCV001200418] Chr18:59273101 [GRCh38]
Chr18:56940333 [GRCh37]
Chr18:18q21.32
likely pathogenic
NM_013435.3(RAX):c.*1127C>A single nucleotide variant Isolated microphthalmia 3 [RCV001128542] Chr18:59267877 [GRCh38]
Chr18:56935109 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.710G>A (p.Gly237Asp) single nucleotide variant Isolated microphthalmia 3 [RCV001128643] Chr18:59269335 [GRCh38]
Chr18:56936567 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.158C>G (p.Ala53Gly) single nucleotide variant Inborn genetic diseases [RCV003273047] Chr18:59273049 [GRCh38]
Chr18:56940281 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.290-62C>A single nucleotide variant not provided [RCV001550126] Chr18:59272676 [GRCh38]
Chr18:56939908 [GRCh37]
Chr18:18q21.32
likely benign
NM_013435.3(RAX):c.289+31G>A single nucleotide variant not provided [RCV001553078] Chr18:59272887 [GRCh38]
Chr18:56940119 [GRCh37]
Chr18:18q21.32
likely benign
NM_013435.3(RAX):c.544-253_544-252dup duplication not provided [RCV001598600] Chr18:59269738..59269739 [GRCh38]
Chr18:56936970..56936971 [GRCh37]
Chr18:18q21.32
likely benign
NM_013435.3(RAX):c.426T>C (p.Thr142=) single nucleotide variant not provided [RCV000885898] Chr18:59272478 [GRCh38]
Chr18:56939710 [GRCh37]
Chr18:18q21.32
likely benign
NM_013435.3(RAX):c.544-7C>T single nucleotide variant Isolated microphthalmia 3 [RCV001397539] Chr18:59269508 [GRCh38]
Chr18:56936740 [GRCh37]
Chr18:18q21.32
likely benign
NM_013435.3(RAX):c.231C>A (p.Pro77=) single nucleotide variant not provided [RCV000931721] Chr18:59272976 [GRCh38]
Chr18:56940208 [GRCh37]
Chr18:18q21.32
likely benign
NM_013435.3(RAX):c.783G>C (p.Pro261=) single nucleotide variant Isolated microphthalmia 3 [RCV001126591]|not provided [RCV000952405] Chr18:59269262 [GRCh38]
Chr18:56936494 [GRCh37]
Chr18:18q21.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013435.3(RAX):c.610C>A (p.Leu204Met) single nucleotide variant Isolated microphthalmia 3 [RCV000886763] Chr18:59269435 [GRCh38]
Chr18:56936667 [GRCh37]
Chr18:18q21.32
benign
NM_013435.3(RAX):c.756G>C (p.Gly252=) single nucleotide variant not provided [RCV000938761] Chr18:59269289 [GRCh38]
Chr18:56936521 [GRCh37]
Chr18:18q21.32
likely benign
NM_013435.3(RAX):c.148A>C (p.Thr50Pro) single nucleotide variant Isolated microphthalmia 3 [RCV000877805]|not provided [RCV001559357] Chr18:59273059 [GRCh38]
Chr18:56940291 [GRCh37]
Chr18:18q21.32
benign|likely benign
NM_013435.3(RAX):c.*1363G>T single nucleotide variant Isolated microphthalmia 3 [RCV001126479] Chr18:59267641 [GRCh38]
Chr18:56934873 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.921C>G (p.Pro307=) single nucleotide variant Isolated microphthalmia 3 [RCV001126589] Chr18:59269124 [GRCh38]
Chr18:56936356 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.863C>A (p.Pro288Gln) single nucleotide variant Isolated microphthalmia 3 [RCV001126590] Chr18:59269182 [GRCh38]
Chr18:56936414 [GRCh37]
Chr18:18q21.32
uncertain significance
GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1 copy number loss not provided [RCV001007016] Chr18:49460596..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
NM_013435.3(RAX):c.215C>G (p.Ala72Gly) single nucleotide variant Isolated microphthalmia 3 [RCV001122956] Chr18:59272992 [GRCh38]
Chr18:56940224 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.153C>G (p.Phe51Leu) single nucleotide variant Isolated microphthalmia 3 [RCV001122957] Chr18:59273054 [GRCh38]
Chr18:56940286 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.618C>T (p.Asp206=) single nucleotide variant Isolated microphthalmia 3 [RCV001128644] Chr18:59269427 [GRCh38]
Chr18:56936659 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.612G>A (p.Leu204=) single nucleotide variant Isolated microphthalmia 3 [RCV001128645] Chr18:59269433 [GRCh38]
Chr18:56936665 [GRCh37]
Chr18:18q21.32
conflicting interpretations of pathogenicity|uncertain significance
NM_013435.3(RAX):c.328C>G (p.Arg110Gly) single nucleotide variant Isolated microphthalmia 3 [RCV001128647] Chr18:59272576 [GRCh38]
Chr18:56939808 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.279C>A (p.Pro93=) single nucleotide variant Isolated microphthalmia 3 [RCV001128648] Chr18:59272928 [GRCh38]
Chr18:56940160 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*1651G>A single nucleotide variant Isolated microphthalmia 3 [RCV001123830] Chr18:59267353 [GRCh38]
Chr18:56934585 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*294C>T single nucleotide variant Isolated microphthalmia 3 [RCV001123927] Chr18:59268710 [GRCh38]
Chr18:56935942 [GRCh37]
Chr18:18q21.32
benign
NM_013435.3(RAX):c.544-238del deletion not provided [RCV001558155] Chr18:59269739 [GRCh38]
Chr18:56936971 [GRCh37]
Chr18:18q21.32
likely benign
NM_013435.3(RAX):c.544-237G>A single nucleotide variant not provided [RCV001550072] Chr18:59269738 [GRCh38]
Chr18:56936970 [GRCh37]
Chr18:18q21.32
likely benign
NM_013435.3(RAX):c.544-253dup duplication not provided [RCV001716627] Chr18:59269738..59269739 [GRCh38]
Chr18:56936970..56936971 [GRCh37]
Chr18:18q21.32
benign
NC_000018.10:g.59273645G>A single nucleotide variant not provided [RCV001674844] Chr18:59273645 [GRCh38]
Chr18:56940877 [GRCh37]
Chr18:18q21.32
benign
NC_000018.10:g.59273626AC[2] microsatellite not provided [RCV001678522] Chr18:59273626..59273627 [GRCh38]
Chr18:56940858..56940859 [GRCh37]
Chr18:18q21.32
benign
NM_013435.3(RAX):c.544-240_544-238del deletion not provided [RCV001621685] Chr18:59269739..59269741 [GRCh38]
Chr18:56936971..56936973 [GRCh37]
Chr18:18q21.32
benign
NM_013435.3(RAX):c.105C>T (p.Ile35=) single nucleotide variant Isolated microphthalmia 3 [RCV001124021] Chr18:59273102 [GRCh38]
Chr18:56940334 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*1921C>T single nucleotide variant Isolated microphthalmia 3 [RCV001128445] Chr18:59267083 [GRCh38]
Chr18:56934315 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*1194G>T single nucleotide variant Isolated microphthalmia 3 [RCV001128541] Chr18:59267810 [GRCh38]
Chr18:56935042 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*1038C>T single nucleotide variant Isolated microphthalmia 3 [RCV001128544] Chr18:59267966 [GRCh38]
Chr18:56935198 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*1350T>G single nucleotide variant Isolated microphthalmia 3 [RCV001126480] Chr18:59267654 [GRCh38]
Chr18:56934886 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.750G>A (p.Pro250=) single nucleotide variant Isolated microphthalmia 3 [RCV001126592] Chr18:59269295 [GRCh38]
Chr18:56936527 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*1771G>A single nucleotide variant Isolated microphthalmia 3 [RCV001122742] Chr18:59267233 [GRCh38]
Chr18:56934465 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*797G>C single nucleotide variant Isolated microphthalmia 3 [RCV001122840] Chr18:59268207 [GRCh38]
Chr18:56935439 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*711G>A single nucleotide variant Isolated microphthalmia 3 [RCV001122841] Chr18:59268293 [GRCh38]
Chr18:56935525 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*1564T>C single nucleotide variant Isolated microphthalmia 3 [RCV001123831] Chr18:59267440 [GRCh38]
Chr18:56934672 [GRCh37]
Chr18:18q21.32
benign
NM_013435.3(RAX):c.*1437G>A single nucleotide variant Isolated microphthalmia 3 [RCV001123832] Chr18:59267567 [GRCh38]
Chr18:56934799 [GRCh37]
Chr18:18q21.32
likely benign
NM_013435.3(RAX):c.998A>G (p.Lys333Arg) single nucleotide variant Inborn genetic diseases [RCV003163280]|Isolated microphthalmia 3 [RCV001123931] Chr18:59269047 [GRCh38]
Chr18:56936279 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*1089C>G single nucleotide variant Isolated microphthalmia 3 [RCV001128543] Chr18:59267915 [GRCh38]
Chr18:56935147 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.521A>G (p.Asn174Ser) single nucleotide variant Isolated microphthalmia 3 [RCV001128646] Chr18:59272383 [GRCh38]
Chr18:56939615 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*409G>A single nucleotide variant Isolated microphthalmia 3 [RCV001122843] Chr18:59268595 [GRCh38]
Chr18:56935827 [GRCh37]
Chr18:18q21.32
benign
NM_013435.3(RAX):c.544-323G>T single nucleotide variant not provided [RCV001708036] Chr18:59269824 [GRCh38]
Chr18:56937056 [GRCh37]
Chr18:18q21.32
benign
NM_013435.3(RAX):c.544-237GA[7] microsatellite not provided [RCV001614365] Chr18:59269719..59269724 [GRCh38]
Chr18:56936951..56936956 [GRCh37]
Chr18:18q21.32
benign
NM_013435.3(RAX):c.30G>A (p.Met10Ile) single nucleotide variant Isolated microphthalmia 3 [RCV001213874] Chr18:59273177 [GRCh38]
Chr18:56940409 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*29C>T single nucleotide variant Isolated microphthalmia 3 [RCV001123930] Chr18:59268975 [GRCh38]
Chr18:56936207 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.800C>T (p.Ala267Val) single nucleotide variant Inborn genetic diseases [RCV002567876]|Isolated microphthalmia 3 [RCV001233141] Chr18:59269245 [GRCh38]
Chr18:56936477 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*1795C>T single nucleotide variant Isolated microphthalmia 3 [RCV001122741] Chr18:59267209 [GRCh38]
Chr18:56934441 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*1418G>A single nucleotide variant Isolated microphthalmia 3 [RCV001123833] Chr18:59267586 [GRCh38]
Chr18:56934818 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*88C>T single nucleotide variant Isolated microphthalmia 3 [RCV001123928] Chr18:59268916 [GRCh38]
Chr18:56936148 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*46C>G single nucleotide variant Isolated microphthalmia 3 [RCV001123929] Chr18:59268958 [GRCh38]
Chr18:56936190 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.-36G>A single nucleotide variant Isolated microphthalmia 3 [RCV001124022] Chr18:59273242 [GRCh38]
Chr18:56940474 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*705G>A single nucleotide variant Isolated microphthalmia 3 [RCV001122842] Chr18:59268299 [GRCh38]
Chr18:56935531 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*857G>T single nucleotide variant Isolated microphthalmia 3 [RCV001128545] Chr18:59268147 [GRCh38]
Chr18:56935379 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.-94G>A single nucleotide variant Isolated microphthalmia 3 [RCV001124023]|not provided [RCV002511048] Chr18:59273300 [GRCh38]
Chr18:56940532 [GRCh37]
Chr18:18q21.32
likely benign|uncertain significance
NM_013435.3(RAX):c.*1674A>G single nucleotide variant Isolated microphthalmia 3 [RCV001122743] Chr18:59267330 [GRCh38]
Chr18:56934562 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.*353G>A single nucleotide variant Isolated microphthalmia 3 [RCV001122844] Chr18:59268651 [GRCh38]
Chr18:56935883 [GRCh37]
Chr18:18q21.32
uncertain significance
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NC_000018.9:g.(?_55225777)_(56940458_?)del deletion not provided [RCV001339457] Chr18:55225777..56940458 [GRCh37]
Chr18:18q21.31-21.32
uncertain significance
GRCh37/hg19 18q21.2-23(chr18:51925586-78010032) copy number gain Global developmental delay [RCV001352665] Chr18:51925586..78010032 [GRCh37]
Chr18:18q21.2-23
pathogenic
NC_000018.9:g.(?_55225777)_(56940458_?)dup duplication not provided [RCV001323676] Chr18:55225777..56940458 [GRCh37]
Chr18:18q21.31-21.32
uncertain significance
NM_013435.3(RAX):c.78C>A (p.Gly26=) single nucleotide variant Isolated microphthalmia 3 [RCV001426652] Chr18:59273129 [GRCh38]
Chr18:56940361 [GRCh37]
Chr18:18q21.32
likely benign
GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1 copy number loss not provided [RCV001531449] Chr18:54285235..77960815 [GRCh37]
Chr18:18q21.31-23
pathogenic
NM_013435.3(RAX):c.544-237GA[6] microsatellite not provided [RCV001674176] Chr18:59269719..59269726 [GRCh38]
Chr18:56936951..56936958 [GRCh37]
Chr18:18q21.32
benign
NM_013435.3(RAX):c.657G>T (p.Ala219=) single nucleotide variant Isolated microphthalmia 3 [RCV001454681] Chr18:59269388 [GRCh38]
Chr18:56936620 [GRCh37]
Chr18:18q21.32
likely benign
GRCh37/hg19 18q21.2-23(chr18:52675201-78014123) copy number loss not specified [RCV002052641] Chr18:52675201..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:53309113-78014123) copy number loss not specified [RCV002052646] Chr18:53309113..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426) copy number loss not specified [RCV002052642] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23
pathogenic
NC_000018.9:g.(?_55217944)_(58039582_?)del deletion not provided [RCV003120789] Chr18:55217944..58039582 [GRCh37]
Chr18:18q21.31-21.32
pathogenic|uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123) copy number loss not specified [RCV002052643] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988) copy number loss not specified [RCV002052639] Chr18:50739715..63705988 [GRCh37]
Chr18:18q21.2-22.1
pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123) copy number loss not specified [RCV002052636] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
NM_013435.3(RAX):c.286G>C (p.Glu96Gln) single nucleotide variant Isolated microphthalmia 3 [RCV001934947] Chr18:59272921 [GRCh38]
Chr18:56940153 [GRCh37]
Chr18:18q21.32
uncertain significance
NC_000018.9:g.(?_55217944)_(58040587_?)dup duplication not provided [RCV001922994] Chr18:55217944..58040587 [GRCh37]
Chr18:18q21.31-21.32
uncertain significance
NM_013435.3(RAX):c.202G>A (p.Gly68Ser) single nucleotide variant Isolated microphthalmia 3 [RCV001953059] Chr18:59273005 [GRCh38]
Chr18:56940237 [GRCh37]
Chr18:18q21.32
uncertain significance
NC_000018.9:g.(?_55217944)_(58039582_?)dup duplication Combined immunodeficiency due to MALT1 deficiency [RCV003109569]|not provided [RCV003116545] Chr18:55217944..58039582 [GRCh37]
Chr18:18q21.31-21.32
uncertain significance|no classifications from unflagged records
NC_000018.9:g.(?_55217944)_(58040587_?)del deletion Isolated microphthalmia 3 [RCV003116662]|not provided [RCV003116663] Chr18:55217944..58040587 [GRCh37]
Chr18:18q21.31-21.32
pathogenic|no classifications from unflagged records
NM_013435.3(RAX):c.289+90T>G single nucleotide variant not provided [RCV002285765] Chr18:59272828 [GRCh38]
Chr18:56940060 [GRCh37]
Chr18:18q21.32
likely benign
GRCh37/hg19 18q21.2-23(chr18:53624405-78014123)x1 copy number loss not provided [RCV002473956] Chr18:53624405..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
NM_013435.3(RAX):c.543+3A>G single nucleotide variant Isolated microphthalmia 3 [RCV002306285] Chr18:59272358 [GRCh38]
Chr18:56939590 [GRCh37]
Chr18:18q21.32
pathogenic
NM_013435.3(RAX):c.266del (p.Pro89fs) deletion Isolated microphthalmia 3 [RCV002306287] Chr18:59272941 [GRCh38]
Chr18:56940173 [GRCh37]
Chr18:18q21.32
pathogenic
NM_013435.3(RAX):c.560G>A (p.Arg187Gln) single nucleotide variant Isolated microphthalmia 3 [RCV002306286] Chr18:59269485 [GRCh38]
Chr18:56936717 [GRCh37]
Chr18:18q21.32
pathogenic
NM_013435.3(RAX):c.198G>A (p.Arg66=) single nucleotide variant not provided [RCV002511902] Chr18:59273009 [GRCh38]
Chr18:56940241 [GRCh37]
Chr18:18q21.32
likely benign
NM_013435.3(RAX):c.184G>A (p.Glu62Lys) single nucleotide variant Inborn genetic diseases [RCV002729545] Chr18:59273023 [GRCh38]
Chr18:56940255 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.499G>T (p.Glu167Ter) single nucleotide variant not provided [RCV002511901] Chr18:59272405 [GRCh38]
Chr18:56939637 [GRCh37]
Chr18:18q21.32
pathogenic
NM_013435.3(RAX):c.497G>C (p.Arg166Pro) single nucleotide variant Isolated microphthalmia 3 [RCV003134438]|not provided [RCV002462638] Chr18:59272407 [GRCh38]
Chr18:56939639 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.136G>A (p.Gly46Arg) single nucleotide variant Inborn genetic diseases [RCV002687739] Chr18:59273071 [GRCh38]
Chr18:56940303 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.170C>T (p.Ala57Val) single nucleotide variant Inborn genetic diseases [RCV002774458] Chr18:59273037 [GRCh38]
Chr18:56940269 [GRCh37]
Chr18:18q21.32
uncertain significance
GRCh37/hg19 18q21.32(chr18:56750526-57003096)x3 copy number gain not provided [RCV002475807] Chr18:56750526..57003096 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.511G>C (p.Gly171Arg) single nucleotide variant Inborn genetic diseases [RCV002707307] Chr18:59272393 [GRCh38]
Chr18:56939625 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.145G>A (p.Gly49Ser) single nucleotide variant Inborn genetic diseases [RCV002822552] Chr18:59273062 [GRCh38]
Chr18:56940294 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.680G>A (p.Gly227Asp) single nucleotide variant Inborn genetic diseases [RCV002854491] Chr18:59269365 [GRCh38]
Chr18:56936597 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.449A>G (p.Glu150Gly) single nucleotide variant Inborn genetic diseases [RCV002853884] Chr18:59272455 [GRCh38]
Chr18:56939687 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.867G>T (p.Leu289Phe) single nucleotide variant Isolated microphthalmia 3 [RCV002933299] Chr18:59269178 [GRCh38]
Chr18:56936410 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.139A>T (p.Ile47Phe) single nucleotide variant Inborn genetic diseases [RCV002915776] Chr18:59273068 [GRCh38]
Chr18:56940300 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.290-7G>T single nucleotide variant Isolated microphthalmia 3 [RCV002967165] Chr18:59272621 [GRCh38]
Chr18:56939853 [GRCh37]
Chr18:18q21.32
likely benign
NM_013435.3(RAX):c.538G>C (p.Val180Leu) single nucleotide variant Isolated microphthalmia 3 [RCV003047669] Chr18:59272366 [GRCh38]
Chr18:56939598 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.874G>A (p.Gly292Ser) single nucleotide variant Inborn genetic diseases [RCV002879210] Chr18:59269171 [GRCh38]
Chr18:56936403 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.916G>A (p.Gly306Arg) single nucleotide variant Inborn genetic diseases [RCV002768951] Chr18:59269129 [GRCh38]
Chr18:56936361 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.683C>G (p.Pro228Arg) single nucleotide variant Inborn genetic diseases [RCV002747758] Chr18:59269362 [GRCh38]
Chr18:56936594 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.917G>T (p.Gly306Val) single nucleotide variant Inborn genetic diseases [RCV002793004] Chr18:59269128 [GRCh38]
Chr18:56936360 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.967A>G (p.Ser323Gly) single nucleotide variant Inborn genetic diseases [RCV002652394] Chr18:59269078 [GRCh38]
Chr18:56936310 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.257C>A (p.Pro86Gln) single nucleotide variant Inborn genetic diseases [RCV003192318] Chr18:59272950 [GRCh38]
Chr18:56940182 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.188G>C (p.Arg63Pro) single nucleotide variant Inborn genetic diseases [RCV003217970] Chr18:59273019 [GRCh38]
Chr18:56940251 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.856T>A (p.Ser286Thr) single nucleotide variant Inborn genetic diseases [RCV003206198] Chr18:59269189 [GRCh38]
Chr18:56936421 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.544G>A (p.Val182Met) single nucleotide variant Isolated microphthalmia 3 [RCV003140641] Chr18:59269501 [GRCh38]
Chr18:56936733 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.857C>G (p.Ser286Cys) single nucleotide variant Inborn genetic diseases [RCV003206199] Chr18:59269188 [GRCh38]
Chr18:56936420 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.736G>C (p.Gly246Arg) single nucleotide variant Inborn genetic diseases [RCV003378306] Chr18:59269309 [GRCh38]
Chr18:56936541 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.55G>A (p.Gly19Ser) single nucleotide variant Inborn genetic diseases [RCV003360114] Chr18:59273152 [GRCh38]
Chr18:56940384 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_013435.3(RAX):c.791G>C (p.Gly264Ala) single nucleotide variant not provided [RCV003442227] Chr18:59269254 [GRCh38]
Chr18:56936486 [GRCh37]
Chr18:18q21.32
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR29B1hsa-miR-29b-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI21897745
MIR29B2hsa-miR-29b-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI21897745

Predicted Target Of
Summary Value
Count of predictions:2851
Count of miRNA genes:901
Interacting mature miRNAs:1080
Transcripts:ENST00000256852, ENST00000334889, ENST00000555288, ENST00000591550
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
High
Medium 53 1 1 12 57 3 5 1 1
Low 1 56 13 250 9 128 3 38 18 85
Below cutoff 375 520 459 97 338 41 1729 325 1793 36 635 445 57 290 943

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_013435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB593018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC067859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF115392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM609537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM609538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM609539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM609540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM609541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM609542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM609543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM609544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM609545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM609546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM609547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU342025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU342026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU342027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU342028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ427311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000256852   ⟹   ENSP00000256852
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1859,267,035 - 59,273,385 (-)Ensembl
RefSeq Acc Id: ENST00000334889   ⟹   ENSP00000334813
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1859,267,038 - 59,273,454 (-)Ensembl
RefSeq Acc Id: ENST00000555288   ⟹   ENSP00000450583
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1859,272,985 - 59,274,086 (-)Ensembl
RefSeq Acc Id: ENST00000591550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1859,272,418 - 59,272,920 (-)Ensembl
RefSeq Acc Id: NM_013435   ⟹   NP_038463
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381859,267,038 - 59,273,454 (-)NCBI
GRCh371856,934,267 - 56,940,625 (-)RGD
Build 361855,085,247 - 55,091,605 (-)NCBI Archive
Celera1853,652,123 - 53,658,480 (-)RGD
HuRef1853,643,456 - 53,649,718 (-)RGD
CHM1_11856,929,439 - 56,935,862 (-)NCBI
T2T-CHM13v2.01859,468,558 - 59,474,973 (-)NCBI
Sequence:
RefSeq Acc Id: NP_038463   ⟸   NM_013435
- UniProtKB: Q86V11 (UniProtKB/Swiss-Prot),   Q9Y2V3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000450583   ⟸   ENST00000555288
RefSeq Acc Id: ENSP00000334813   ⟸   ENST00000334889
RefSeq Acc Id: ENSP00000256852   ⟸   ENST00000256852
Protein Domains
Homeobox   OAR

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y2V3-F1-model_v2 AlphaFold Q9Y2V3 1-346 view protein structure

Promoters
RGD ID:7237459
Promoter ID:EPDNEW_H24475
Type:initiation region
Name:RAX_1
Description:retina and anterior neural fold homeobox
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381859,273,412 - 59,273,472EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18662 AgrOrtholog
COSMIC RAX COSMIC
Ensembl Genes ENSG00000134438 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000256852.7 UniProtKB/Swiss-Prot
  ENST00000334889 ENTREZGENE
  ENST00000334889.4 UniProtKB/Swiss-Prot
  ENST00000555288.1 UniProtKB/TrEMBL
Gene3D-CATH Homeodomain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000134438 GTEx
HGNC ID HGNC:18662 ENTREZGENE
Human Proteome Map RAX Human Proteome Map
InterPro Homeobox-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_CS UniProtKB/Swiss-Prot
  Homeobox_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OAR_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAX/RAX2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:30062 UniProtKB/Swiss-Prot
NCBI Gene 30062 ENTREZGENE
OMIM 601881 OMIM
PANTHER PTHR46271 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RETINAL HOMEOBOX PROTEIN RX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Homeodomain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38626 PharmGKB
PROSITE HOMEOBOX_1 UniProtKB/Swiss-Prot
  HOMEOBOX_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46689 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A127AXB3_HUMAN UniProtKB/TrEMBL
  A0A127AXF0_HUMAN UniProtKB/TrEMBL
  A0A127AXH5_HUMAN UniProtKB/TrEMBL
  A0A127AYS6_HUMAN UniProtKB/TrEMBL
  G3V2C8_HUMAN UniProtKB/TrEMBL
  Q86V11 ENTREZGENE
  Q9Y2V3 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q86V11 UniProtKB/Swiss-Prot