MYT1 (myelin transcription factor 1) - Rat Genome Database

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Gene: MYT1 (myelin transcription factor 1) Homo sapiens
Analyze
Symbol: MYT1
Name: myelin transcription factor 1
RGD ID: 1312603
HGNC Page HGNC:7622
Description: Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II transcription regulatory region sequence-specific DNA binding activity; and cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including diaphragm development; regulation of gene expression; and regulation of insulin secretion involved in cellular response to glucose stimulus. Located in cytosol and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C20orf36; MTF1; myelin transcription factor I; MYTI; neural zinc finger transcription factor 2; NZF2; PLPB1; proteolipid protein binding protein; proteolipid protein-binding protein; ZC2H2C1; ZC2HC4A
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382064,164,452 - 64,242,253 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2064,102,394 - 64,242,253 (+)EnsemblGRCh38hg38GRCh38
GRCh372062,795,805 - 62,873,606 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362062,266,271 - 62,344,050 (+)NCBINCBI36Build 36hg18NCBI36
Build 342062,266,270 - 62,344,048NCBI
Celera2059,480,507 - 59,558,438 (+)NCBICelera
Cytogenetic Map20q13.33NCBI
HuRef2059,521,605 - 59,598,530 (+)NCBIHuRef
CHM1_12062,696,840 - 62,774,541 (+)NCBICHM1_1
T2T-CHM13v2.02065,983,955 - 66,063,029 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (ISA)
cytosol  (IDA)
nucleoplasm  (IDA)
nucleus  (IEA,NAS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
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
Additional References at PubMed
PMID:1280325   PMID:7519254   PMID:8530187   PMID:9373037   PMID:10048485   PMID:10470851   PMID:10504341   PMID:11780052   PMID:12477932   PMID:12524179   PMID:14962745   PMID:15935060  
PMID:17330875   PMID:18029348   PMID:18950845   PMID:19204086   PMID:19274049   PMID:21873635   PMID:22792062   PMID:23146904   PMID:28218735   PMID:28611215   PMID:28612832   PMID:29291346  
PMID:30021884   PMID:30312684   PMID:30595380   PMID:32251364   PMID:32871052   PMID:33880880   PMID:33961781   PMID:34011236   PMID:34079125  


Genomics

Comparative Map Data
MYT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382064,164,452 - 64,242,253 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2064,102,394 - 64,242,253 (+)EnsemblGRCh38hg38GRCh38
GRCh372062,795,805 - 62,873,606 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362062,266,271 - 62,344,050 (+)NCBINCBI36Build 36hg18NCBI36
Build 342062,266,270 - 62,344,048NCBI
Celera2059,480,507 - 59,558,438 (+)NCBICelera
Cytogenetic Map20q13.33NCBI
HuRef2059,521,605 - 59,598,530 (+)NCBIHuRef
CHM1_12062,696,840 - 62,774,541 (+)NCBICHM1_1
T2T-CHM13v2.02065,983,955 - 66,063,029 (+)NCBIT2T-CHM13v2.0
Myt1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392181,405,099 - 181,469,579 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2181,405,125 - 181,469,590 (+)EnsemblGRCm39 Ensembl
GRCm382181,763,332 - 181,827,775 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2181,763,332 - 181,827,797 (+)EnsemblGRCm38mm10GRCm38
MGSCv372181,498,037 - 181,562,480 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362181,696,448 - 181,757,174 (+)NCBIMGSCv36mm8
Celera2185,838,883 - 185,903,600 (+)NCBICelera
Cytogenetic Map2H4NCBI
cM Map2103.77NCBI
Myt1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83189,263,569 - 189,327,844 (+)NCBIGRCr8
mRatBN7.23168,890,466 - 168,950,341 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3168,886,089 - 168,950,341 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3173,296,066 - 173,326,848 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03182,255,163 - 182,285,949 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03178,920,491 - 178,951,261 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03177,281,365 - 177,341,550 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3177,310,753 - 177,341,547 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03180,989,537 - 181,049,955 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43170,954,769 - 170,985,583 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13170,827,281 - 170,891,617 (+)NCBI
Celera3163,640,239 - 163,671,029 (-)NCBICelera
Cytogenetic Map3q43NCBI
Myt1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495552847,800 - 112,114 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495552848,198 - 108,293 (-)NCBIChiLan1.0ChiLan1.0
MYT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22169,986,961 - 70,067,209 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12069,978,970 - 70,059,221 (+)NCBINHGRI_mPanPan1
PanPan1.12062,081,231 - 62,153,741 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2062,108,924 - 62,151,936 (+)Ensemblpanpan1.1panPan2
MYT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12447,574,201 - 47,639,962 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2447,574,255 - 47,638,315 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2446,711,804 - 46,773,586 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02448,717,427 - 48,779,220 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2448,713,529 - 48,779,222 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12447,562,006 - 47,623,774 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02447,686,311 - 47,748,092 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02448,425,706 - 48,487,543 (+)NCBIUU_Cfam_GSD_1.0
Myt1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640195,852,513 - 195,914,291 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493651411,308,071 - 11,368,801 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493651411,305,929 - 11,367,935 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MYT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1762,979,350 - 63,014,696 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11762,955,052 - 63,020,652 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
MYT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1259,574 - 96,113 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl261,371 - 96,583 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605047,439,664 - 47,531,211 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Myt1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474129,775,504 - 29,837,606 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474129,779,177 - 29,837,606 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MYT1
78 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004535.3(MYT1):c.2138C>T (p.Ser713Phe) single nucleotide variant Autism spectrum disorder [RCV001291443] Chr20:64219879 [GRCh38]
Chr20:62851232 [GRCh37]
Chr20:20q13.33		 association
GRCh38/hg38 20q13.33(chr20:64157529-64277321)x3 copy number gain See cases [RCV000050839] Chr20:64157529..64277321 [GRCh38]
Chr20:62788882..62908674 [GRCh37]
Chr20:62259326..62379118 [NCBI36]
Chr20:20q13.33		 uncertain significance
GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3 copy number gain Global developmental delay [RCV000051131]|See cases [RCV000051131] Chr20:63199020..64277321 [GRCh38]
Chr20:61830372..62908674 [GRCh37]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.33(chr20:64140190-64277321)x3 copy number gain See cases [RCV000052795] Chr20:64140190..64277321 [GRCh38]
Chr20:62771543..62908674 [GRCh37]
Chr20:62241987..62379118 [NCBI36]
Chr20:20q13.33		 uncertain significance
GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1 copy number loss See cases [RCV000052769] Chr20:62545370..64241486 [GRCh38]
Chr20:61142577..62872839 [GRCh37]
Chr20:60553022..62343283 [NCBI36]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.33(chr20:63441478-64277321)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052772]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052772]|See cases [RCV000052772] Chr20:63441478..64277321 [GRCh38]
Chr20:62072831..62908674 [GRCh37]
Chr20:61543275..62379118 [NCBI36]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.33(chr20:64206685-64261836)x1 copy number loss See cases [RCV000052774] Chr20:64206685..64261836 [GRCh38]
Chr20:62838038..62893189 [GRCh37]
Chr20:62308482..62363633 [NCBI36]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 copy number gain See cases [RCV000053035] Chr20:44787704..64277321 [GRCh38]
Chr20:43416345..62908674 [GRCh37]
Chr20:42849759..62379118 [NCBI36]
Chr20:20q13.12-13.33		 pathogenic
NM_004535.2(MYT1):c.-99+4321C>A single nucleotide variant Lung cancer [RCV000101740] Chr20:64169060 [GRCh38]
Chr20:62800413 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh38/hg38 20q13.33(chr20:64197187-64277321)x3 copy number gain See cases [RCV000133644] Chr20:64197187..64277321 [GRCh38]
Chr20:62828540..62908674 [GRCh37]
Chr20:62298984..62379118 [NCBI36]
Chr20:20q13.33		 uncertain significance
GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3 copy number gain See cases [RCV000051131] Chr20:63199020..64277321 [GRCh38]
Chr20:61830372..62908674 [GRCh37]
Chr20:61300817..62379118 [NCBI36]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.33(chr20:64130783-64277321)x3 copy number gain See cases [RCV000133797] Chr20:64130783..64277321 [GRCh38]
Chr20:62762136..62908674 [GRCh37]
Chr20:62232580..62379118 [NCBI36]
Chr20:20q13.33		 benign
GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1 copy number loss See cases [RCV000133842] Chr20:62561794..64277321 [GRCh38]
Chr20:61211869..62908674 [GRCh37]
Chr20:60569446..62379118 [NCBI36]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.33(chr20:64197187-64317737)x3 copy number gain See cases [RCV000135262] Chr20:64197187..64317737 [GRCh38]
Chr20:62828540..62949090 [GRCh37]
Chr20:62298984..62419534 [NCBI36]
Chr20:20q13.33		 likely benign
GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3 copy number gain See cases [RCV000135805] Chr20:59041966..64277321 [GRCh38]
Chr20:57617021..62908674 [GRCh37]
Chr20:57050416..62379118 [NCBI36]
Chr20:20q13.32-13.33		 pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20q13.33(chr20:63199020-64277321)x1 copy number loss See cases [RCV000135514] Chr20:63199020..64277321 [GRCh38]
Chr20:61830372..62908674 [GRCh37]
Chr20:61300817..62379118 [NCBI36]
Chr20:20q13.33		 likely pathogenic
GRCh38/hg38 20q13.33(chr20:64023324-64261777)x1 copy number loss See cases [RCV000136499] Chr20:64023324..64261777 [GRCh38]
Chr20:62654677..62893130 [GRCh37]
Chr20:62125121..62363574 [NCBI36]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.33(chr20:63153963-64277321)x1 copy number loss See cases [RCV000137385] Chr20:63153963..64277321 [GRCh38]
Chr20:61785315..62908674 [GRCh37]
Chr20:61255760..62379118 [NCBI36]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3 copy number gain See cases [RCV000138035] Chr20:56198032..64277321 [GRCh38]
Chr20:54773088..62908674 [GRCh37]
Chr20:54206495..62379118 [NCBI36]
Chr20:20q13.2-13.33		 pathogenic
GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3 copy number gain See cases [RCV000139100] Chr20:61326549..64277326 [GRCh38]
Chr20:59901605..62908679 [GRCh37]
Chr20:59335000..62379123 [NCBI36]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3 copy number gain See cases [RCV000141347] Chr20:57229415..64273089 [GRCh38]
Chr20:55804471..62904442 [GRCh37]
Chr20:55237878..62374886 [NCBI36]
Chr20:20q13.31-13.33		 pathogenic
GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1 copy number loss See cases [RCV000141744] Chr20:62582073..64284202 [GRCh38]
Chr20:61179280..62915555 [GRCh37]
Chr20:60589725..62385999 [NCBI36]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.33(chr20:63385523-64270639)x3 copy number gain See cases [RCV000141762] Chr20:63385523..64270639 [GRCh38]
Chr20:62016875..62901992 [GRCh37]
Chr20:61487319..62372436 [NCBI36]
Chr20:20q13.33		 uncertain significance
GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1 copy number loss See cases [RCV000141676] Chr20:62663307..64284202 [GRCh38]
Chr20:61294659..62915555 [GRCh37]
Chr20:60765104..62385999 [NCBI36]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.33(chr20:64177078-64277326)x3 copy number gain See cases [RCV000142506] Chr20:64177078..64277326 [GRCh38]
Chr20:62808431..62908679 [GRCh37]
Chr20:62278875..62379123 [NCBI36]
Chr20:20q13.33		 uncertain significance
GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3 copy number gain See cases [RCV000143584] Chr20:53236165..64284202 [GRCh38]
Chr20:51852704..62915555 [GRCh37]
Chr20:51286111..62385999 [NCBI36]
Chr20:20q13.2-13.33		 likely pathogenic
GRCh37/hg19 20q13.33(chr20:61827144-62907526)x1 copy number loss See cases [RCV000240214] Chr20:61827144..62907526 [GRCh37]
Chr20:20q13.33		 pathogenic
GRCh37/hg19 20q13.33(chr20:61337529-62904501)x1 copy number loss not provided [RCV000488148] Chr20:61337529..62904501 [GRCh37]
Chr20:20q13.33		 likely pathogenic
GRCh37/hg19 20q13.33(chr20:61827144-62907467)x1 copy number loss See cases [RCV000446096] Chr20:61827144..62907467 [GRCh37]
Chr20:20q13.33		 pathogenic
GRCh37/hg19 20q13.33(chr20:60473339-62915555)x3 copy number gain See cases [RCV000446009] Chr20:60473339..62915555 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.33(chr20:62731576-62907467)x3 copy number gain See cases [RCV000448100] Chr20:62731576..62907467 [GRCh37]
Chr20:20q13.33		 benign
GRCh37/hg19 20q13.33(chr20:61884113-62915555)x1 copy number loss See cases [RCV000510189] Chr20:61884113..62915555 [GRCh37]
Chr20:20q13.33		 pathogenic
GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3 copy number gain See cases [RCV000511980] Chr20:51542616..62915555 [GRCh37]
Chr20:20q13.2-13.33		 likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20q13.33(chr20:62762392-62915555)x3 copy number gain See cases [RCV000511294] Chr20:62762392..62915555 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.2137T>A (p.Ser713Thr) single nucleotide variant Inborn genetic diseases [RCV003292544] Chr20:64219878 [GRCh38]
Chr20:62851231 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.1916G>A (p.Arg639His) single nucleotide variant Inborn genetic diseases [RCV003275875] Chr20:64218980 [GRCh38]
Chr20:62850333 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.33(chr20:62603908-62857300)x1 copy number loss See cases [RCV000512532] Chr20:62603908..62857300 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20q13.33(chr20:62002369-62915555)x1 copy number loss not provided [RCV000684126] Chr20:62002369..62915555 [GRCh37]
Chr20:20q13.33		 pathogenic
NM_004535.3(MYT1):c.655G>C (p.Glu219Gln) single nucleotide variant Intellectual disability [RCV001252334] Chr20:64207851 [GRCh38]
Chr20:62839204 [GRCh37]
Chr20:20q13.33		 likely benign
GRCh37/hg19 20q13.33(chr20:62090403-62915555)x1 copy number loss not provided [RCV000684123] Chr20:62090403..62915555 [GRCh37]
Chr20:20q13.33		 pathogenic
GRCh37/hg19 20q13.33(chr20:62766314-62915555)x1 copy number loss not provided [RCV000684102] Chr20:62766314..62915555 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20q13.33(chr20:60053234-62961294)x3 copy number gain not provided [RCV000741328] Chr20:60053234..62961294 [GRCh37]
Chr20:20q13.33		 pathogenic
GRCh37/hg19 20q13.33(chr20:60063645-62961294)x3 copy number gain not provided [RCV000741329] Chr20:60063645..62961294 [GRCh37]
Chr20:20q13.33		 pathogenic
GRCh37/hg19 20q13.33(chr20:62764228-62961294)x3 copy number gain not provided [RCV000741404] Chr20:62764228..62961294 [GRCh37]
Chr20:20q13.33		 benign
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_004535.3(MYT1):c.1095C>T (p.Asp365=) single nucleotide variant not provided [RCV000976590] Chr20:64208291 [GRCh38]
Chr20:62839644 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.55+10G>A single nucleotide variant MYT1-related condition [RCV003926188]|not provided [RCV000962840] Chr20:64198926 [GRCh38]
Chr20:62830279 [GRCh37]
Chr20:20q13.33		 benign
NM_004535.3(MYT1):c.1807A>G (p.Lys603Glu) single nucleotide variant not provided [RCV003314124] Chr20:64217242 [GRCh38]
Chr20:62848595 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.1285A>G (p.Ser429Gly) single nucleotide variant not provided [RCV000904210] Chr20:64208481 [GRCh38]
Chr20:62839834 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.717C>T (p.Ser239=) single nucleotide variant not provided [RCV000982762] Chr20:64207913 [GRCh38]
Chr20:62839266 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.3249C>T (p.Cys1083=) single nucleotide variant MYT1-related condition [RCV003910802]|not provided [RCV000904452] Chr20:64240331 [GRCh38]
Chr20:62871684 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.783C>T (p.Asp261=) single nucleotide variant MYT1-related condition [RCV003923078]|not provided [RCV000906239] Chr20:64207979 [GRCh38]
Chr20:62839332 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.1992C>T (p.Asp664=) single nucleotide variant not provided [RCV000924262] Chr20:64219733 [GRCh38]
Chr20:62851086 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.1662C>T (p.Val554=) single nucleotide variant not provided [RCV000983322] Chr20:64217097 [GRCh38]
Chr20:62848450 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.1071C>A (p.His357Gln) single nucleotide variant MYT1-related condition [RCV003913239]|not provided [RCV000948076] Chr20:64208267 [GRCh38]
Chr20:62839620 [GRCh37]
Chr20:20q13.33		 benign
NM_004535.3(MYT1):c.1959C>T (p.Asp653=) single nucleotide variant MYT1-related condition [RCV003922970]|not provided [RCV000901210] Chr20:64219023 [GRCh38]
Chr20:62850376 [GRCh37]
Chr20:20q13.33		 benign
GRCh37/hg19 20q13.33(chr20:61152321-62915555)x1 copy number loss not provided [RCV001007103] Chr20:61152321..62915555 [GRCh37]
Chr20:20q13.33		 pathogenic
NM_004535.3(MYT1):c.438C>T (p.Ile146=) single nucleotide variant not provided [RCV000925049] Chr20:64207634 [GRCh38]
Chr20:62838987 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.2649C>T (p.Asp883=) single nucleotide variant MYT1-related condition [RCV003935943]|not provided [RCV000961232] Chr20:64227945 [GRCh38]
Chr20:62859298 [GRCh37]
Chr20:20q13.33		 benign|likely benign
NM_004535.3(MYT1):c.315G>A (p.Ser105=) single nucleotide variant MYT1-related condition [RCV003926124]|not provided [RCV000960316] Chr20:64205718 [GRCh38]
Chr20:62837071 [GRCh37]
Chr20:20q13.33		 benign|likely benign
NM_004535.3(MYT1):c.2856C>T (p.Asp952=) single nucleotide variant not provided [RCV000917684] Chr20:64232344 [GRCh38]
Chr20:62863697 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.903A>G (p.Glu301=) single nucleotide variant not provided [RCV000918744] Chr20:64208099 [GRCh38]
Chr20:62839452 [GRCh37]
Chr20:20q13.33		 likely benign
GRCh37/hg19 20q13.33(chr20:62770505-62825339)x1 copy number loss not provided [RCV000846217] Chr20:62770505..62825339 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.468C>A (p.Ser156Arg) single nucleotide variant Inborn genetic diseases [RCV003245982]|MYT1-related condition [RCV003906684] Chr20:64207664 [GRCh38]
Chr20:62839017 [GRCh37]
Chr20:20q13.33		 benign|uncertain significance
NM_004535.3(MYT1):c.2138C>A (p.Ser713Tyr) single nucleotide variant Inborn genetic diseases [RCV003292545] Chr20:64219879 [GRCh38]
Chr20:62851232 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.87-6C>T single nucleotide variant not provided [RCV001715938] Chr20:64205029 [GRCh38]
Chr20:62836382 [GRCh37]
Chr20:20q13.33		 benign
NM_004535.3(MYT1):c.2664C>T (p.Pro888=) single nucleotide variant MYT1-related condition [RCV003923150]|not provided [RCV000911005] Chr20:64227960 [GRCh38]
Chr20:62859313 [GRCh37]
Chr20:20q13.33		 benign|likely benign
NM_004535.3(MYT1):c.2760C>T (p.Ala920=) single nucleotide variant MYT1-related condition [RCV003930702]|not provided [RCV000887909] Chr20:64232248 [GRCh38]
Chr20:62863601 [GRCh37]
Chr20:20q13.33		 benign|likely benign
NM_004535.3(MYT1):c.2592C>T (p.Ser864=) single nucleotide variant not provided [RCV000887292] Chr20:64227888 [GRCh38]
Chr20:62859241 [GRCh37]
Chr20:20q13.33		 benign
NM_004535.3(MYT1):c.865G>A (p.Glu289Lys) single nucleotide variant MYT1-related condition [RCV003940557]|not provided [RCV000886690] Chr20:64208061 [GRCh38]
Chr20:62839414 [GRCh37]
Chr20:20q13.33		 benign|likely benign
NM_004535.3(MYT1):c.807GGA[4] (p.Glu273del) microsatellite MYT1-related condition [RCV003972826]|not provided [RCV000964395] Chr20:64208001..64208003 [GRCh38]
Chr20:62839354..62839356 [GRCh37]
Chr20:20q13.33		 benign
NM_004535.3(MYT1):c.477C>T (p.Ser159=) single nucleotide variant MYT1-related condition [RCV003913003]|not provided [RCV000910383] Chr20:64207673 [GRCh38]
Chr20:62839026 [GRCh37]
Chr20:20q13.33		 benign
NM_004535.3(MYT1):c.3285C>T (p.Thr1095=) single nucleotide variant not provided [RCV000926749] Chr20:64240367 [GRCh38]
Chr20:62871720 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.891AGAGGA[2] (p.Glu305_Glu306del) microsatellite MYT1-related condition [RCV003912994]|not provided [RCV000909609] Chr20:64208082..64208087 [GRCh38]
Chr20:62839435..62839440 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.384C>T (p.Pro128=) single nucleotide variant MYT1-related condition [RCV003910565]|not provided [RCV000890041] Chr20:64205787 [GRCh38]
Chr20:62837140 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.2985C>T (p.Ser995=) single nucleotide variant not provided [RCV000912115] Chr20:64236642 [GRCh38]
Chr20:62867995 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.409G>A (p.Val137Ile) single nucleotide variant not provided [RCV000913676] Chr20:64207605 [GRCh38]
Chr20:62838958 [GRCh37]
Chr20:20q13.33		 benign
NM_004535.3(MYT1):c.1623G>T (p.Arg541=) single nucleotide variant MYT1-related condition [RCV003910580]|not provided [RCV000890844] Chr20:64213639 [GRCh38]
Chr20:62844992 [GRCh37]
Chr20:20q13.33		 benign
NM_004535.3(MYT1):c.1941C>T (p.Leu647=) single nucleotide variant not provided [RCV001640844] Chr20:64219005 [GRCh38]
Chr20:62850358 [GRCh37]
Chr20:20q13.33		 benign
GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3 copy number gain not provided [RCV002473575] Chr20:60621074..62915555 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.346G>A (p.Glu116Lys) single nucleotide variant Intellectual disability [RCV001252335] Chr20:64205749 [GRCh38]
Chr20:62837102 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.2460C>A (p.Ser820Arg) single nucleotide variant Intellectual disability [RCV001252336] Chr20:64223291 [GRCh38]
Chr20:62854644 [GRCh37]
Chr20:20q13.33		 likely benign
GRCh37/hg19 20q13.33(chr20:62678394-62884479)x3 copy number gain not provided [RCV001007105] Chr20:62678394..62884479 [GRCh37]
Chr20:20q13.33		 likely benign|uncertain significance
GRCh37/hg19 20q13.33(chr20:62576747-62915555)x3 copy number gain not provided [RCV001258915] Chr20:62576747..62915555 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.33(chr20:61975605-62915555)x1 copy number loss not provided [RCV001258914] Chr20:61975605..62915555 [GRCh37]
Chr20:20q13.33		 pathogenic
NM_004535.3(MYT1):c.790G>C (p.Glu264Gln) single nucleotide variant Intellectual disability [RCV001261388] Chr20:64207986 [GRCh38]
Chr20:62839339 [GRCh37]
Chr20:20q13.33		 likely pathogenic
GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3 copy number gain not provided [RCV001537917] Chr20:51799648..62916626 [GRCh37]
Chr20:20q13.2-13.33		 pathogenic
NM_004535.3(MYT1):c.2126C>T (p.Ala709Val) single nucleotide variant Hereditary spastic paraplegia [RCV001376697] Chr20:64219867 [GRCh38]
Chr20:62851220 [GRCh37]
Chr20:20q13.33		 affects
NM_004535.3(MYT1):c.2095G>A (p.Asp699Asn) single nucleotide variant Inborn genetic diseases [RCV003275319] Chr20:64219836 [GRCh38]
Chr20:62851189 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.33(chr20:61038552-62907579) copy number loss Seizures, benign familial neonatal, 1 [RCV001786557] Chr20:61038552..62907579 [GRCh37]
Chr20:20q13.33		 likely pathogenic
GRCh37/hg19 20q13.33(chr20:61273854-62907579) copy number loss Seizures, benign familial neonatal, 1 [RCV001786556] Chr20:61273854..62907579 [GRCh37]
Chr20:20q13.33		 likely pathogenic
GRCh37/hg19 20q13.33(chr20:61003263-62915555) copy number loss not specified [RCV002052717] Chr20:61003263..62915555 [GRCh37]
Chr20:20q13.33		 pathogenic
GRCh37/hg19 20q13.33(chr20:61775756-62915555)x1 copy number loss not provided [RCV001834246] Chr20:61775756..62915555 [GRCh37]
Chr20:20q13.33		 pathogenic
GRCh37/hg19 20q13.33(chr20:60473339-62915555) copy number gain not specified [RCV002052714] Chr20:60473339..62915555 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.33(chr20:61619222-62915555) copy number loss not specified [RCV002052718] Chr20:61619222..62915555 [GRCh37]
Chr20:20q13.33		 pathogenic
GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555) copy number gain not specified [RCV002052713] Chr20:56835739..62915555 [GRCh37]
Chr20:20q13.32-13.33		 pathogenic
NM_004535.3(MYT1):c.3214G>A (p.Ala1072Thr) single nucleotide variant Inborn genetic diseases [RCV003255933] Chr20:64239880 [GRCh38]
Chr20:62871233 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.789G>C (p.Glu263Asp) single nucleotide variant Inborn genetic diseases [RCV002772801] Chr20:64207985 [GRCh38]
Chr20:62839338 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.673G>A (p.Val225Ile) single nucleotide variant Inborn genetic diseases [RCV002682352] Chr20:64207869 [GRCh38]
Chr20:62839222 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.1795A>G (p.Met599Val) single nucleotide variant Inborn genetic diseases [RCV002859929] Chr20:64217230 [GRCh38]
Chr20:62848583 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.229C>T (p.His77Tyr) single nucleotide variant Inborn genetic diseases [RCV002683994] Chr20:64205632 [GRCh38]
Chr20:62836985 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.290C>T (p.Thr97Ile) single nucleotide variant Inborn genetic diseases [RCV002696360] Chr20:64205693 [GRCh38]
Chr20:62837046 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.1438C>T (p.His480Tyr) single nucleotide variant Inborn genetic diseases [RCV002822736] Chr20:64212059 [GRCh38]
Chr20:62843412 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.1973C>G (p.Ser658Cys) single nucleotide variant Inborn genetic diseases [RCV002869478] Chr20:64219714 [GRCh38]
Chr20:62851067 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.437T>C (p.Ile146Thr) single nucleotide variant Inborn genetic diseases [RCV002757987] Chr20:64207633 [GRCh38]
Chr20:62838986 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.432C>A (p.Asn144Lys) single nucleotide variant Inborn genetic diseases [RCV002869238] Chr20:64207628 [GRCh38]
Chr20:62838981 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.2984G>A (p.Ser995Asn) single nucleotide variant Inborn genetic diseases [RCV002949924] Chr20:64236641 [GRCh38]
Chr20:62867994 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.1929G>A (p.Met643Ile) single nucleotide variant Inborn genetic diseases [RCV002888508] Chr20:64218993 [GRCh38]
Chr20:62850346 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.3191G>A (p.Ser1064Asn) single nucleotide variant Inborn genetic diseases [RCV002798770] Chr20:64239857 [GRCh38]
Chr20:62871210 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.1076G>A (p.Arg359Gln) single nucleotide variant Inborn genetic diseases [RCV002661981] Chr20:64208272 [GRCh38]
Chr20:62839625 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.1858T>C (p.Ser620Pro) single nucleotide variant Inborn genetic diseases [RCV002822147] Chr20:64218922 [GRCh38]
Chr20:62850275 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.2083G>A (p.Val695Met) single nucleotide variant Inborn genetic diseases [RCV002691348] Chr20:64219824 [GRCh38]
Chr20:62851177 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.692G>T (p.Arg231Leu) single nucleotide variant Inborn genetic diseases [RCV002891805] Chr20:64207888 [GRCh38]
Chr20:62839241 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.784G>A (p.Glu262Lys) single nucleotide variant Inborn genetic diseases [RCV002875090] Chr20:64207980 [GRCh38]
Chr20:62839333 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.1687A>G (p.Asn563Asp) single nucleotide variant Inborn genetic diseases [RCV002934152] Chr20:64217122 [GRCh38]
Chr20:62848475 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.244G>C (p.Ala82Pro) single nucleotide variant Inborn genetic diseases [RCV002878840] Chr20:64205647 [GRCh38]
Chr20:62837000 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.583G>A (p.Val195Met) single nucleotide variant Inborn genetic diseases [RCV002768931] Chr20:64207779 [GRCh38]
Chr20:62839132 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.3278C>A (p.Thr1093Asn) single nucleotide variant Inborn genetic diseases [RCV002718973] Chr20:64240360 [GRCh38]
Chr20:62871713 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.2081G>A (p.Gly694Asp) single nucleotide variant Inborn genetic diseases [RCV002680344] Chr20:64219822 [GRCh38]
Chr20:62851175 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.1583A>C (p.Gln528Pro) single nucleotide variant Inborn genetic diseases [RCV002814170] Chr20:64213599 [GRCh38]
Chr20:62844952 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.1913C>T (p.Thr638Met) single nucleotide variant Inborn genetic diseases [RCV003208203] Chr20:64218977 [GRCh38]
Chr20:62850330 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.125G>A (p.Arg42Gln) single nucleotide variant Inborn genetic diseases [RCV003188755] Chr20:64205073 [GRCh38]
Chr20:62836426 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.379C>T (p.Arg127Cys) single nucleotide variant Inborn genetic diseases [RCV003174871] Chr20:64205782 [GRCh38]
Chr20:62837135 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.253G>A (p.Glu85Lys) single nucleotide variant Inborn genetic diseases [RCV003178933] Chr20:64205656 [GRCh38]
Chr20:62837009 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.1709G>A (p.Arg570Lys) single nucleotide variant Inborn genetic diseases [RCV003262235] Chr20:64217144 [GRCh38]
Chr20:62848497 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.2537C>T (p.Thr846Met) single nucleotide variant Inborn genetic diseases [RCV003309508] Chr20:64227423 [GRCh38]
Chr20:62858776 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3 copy number gain See cases [RCV003329549] Chr20:52773668..62965020 [GRCh37]
Chr20:20q13.2-13.33		 uncertain significance
NM_004535.3(MYT1):c.232C>G (p.Pro78Ala) single nucleotide variant Inborn genetic diseases [RCV003369805] Chr20:64205635 [GRCh38]
Chr20:62836988 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.33(chr20:62347562-62915555)x1 copy number loss not provided [RCV003483370] Chr20:62347562..62915555 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.873A>G (p.Glu291=) single nucleotide variant not provided [RCV003440520] Chr20:64208069 [GRCh38]
Chr20:62839422 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.817G>A (p.Glu273Lys) single nucleotide variant not provided [RCV003440519] Chr20:64208013 [GRCh38]
Chr20:62839366 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.1059C>T (p.Asp353=) single nucleotide variant MYT1-related condition [RCV003939533] Chr20:64208255 [GRCh38]
Chr20:62839608 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.2739C>T (p.Ser913=) single nucleotide variant MYT1-related condition [RCV003972321] Chr20:64232227 [GRCh38]
Chr20:62863580 [GRCh37]
Chr20:20q13.33		 benign
NM_004535.3(MYT1):c.2130C>T (p.Pro710=) single nucleotide variant MYT1-related condition [RCV003952236] Chr20:64219871 [GRCh38]
Chr20:62851224 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.436A>G (p.Ile146Val) single nucleotide variant Inborn genetic diseases [RCV004460477] Chr20:64207632 [GRCh38]
Chr20:62838985 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.861GGA[3] (p.Glu306del) microsatellite MYT1-related condition [RCV003916951] Chr20:64208055..64208057 [GRCh38]
Chr20:62839408..62839410 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.2835C>T (p.Thr945=) single nucleotide variant MYT1-related condition [RCV003954380] Chr20:64232323 [GRCh38]
Chr20:62863676 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.117G>A (p.Gly39=) single nucleotide variant MYT1-related condition [RCV003971682] Chr20:64205065 [GRCh38]
Chr20:62836418 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.46G>T (p.Ala16Ser) single nucleotide variant Inborn genetic diseases [RCV004460486] Chr20:64198907 [GRCh38]
Chr20:62830260 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.976C>T (p.Pro326Ser) single nucleotide variant Inborn genetic diseases [RCV004460511] Chr20:64208172 [GRCh38]
Chr20:62839525 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.3213C>T (p.Leu1071=) single nucleotide variant MYT1-related condition [RCV003976600] Chr20:64239879 [GRCh38]
Chr20:62871232 [GRCh37]
Chr20:20q13.33		 benign
NM_004535.3(MYT1):c.*305G>T single nucleotide variant MYT1-related condition [RCV003969662] Chr20:64240753 [GRCh38]
Chr20:62872106 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.2345C>G (p.Thr782Ser) single nucleotide variant MYT1-related condition [RCV003919720] Chr20:64221996 [GRCh38]
Chr20:62853349 [GRCh37]
Chr20:20q13.33		 benign
NM_004535.3(MYT1):c.235C>T (p.Leu79=) single nucleotide variant MYT1-related condition [RCV003973962] Chr20:64205638 [GRCh38]
Chr20:62836991 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.2796G>A (p.Ser932=) single nucleotide variant MYT1-related condition [RCV003922227] Chr20:64232284 [GRCh38]
Chr20:62863637 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.3057G>A (p.Ser1019=) single nucleotide variant MYT1-related condition [RCV003924005] Chr20:64237354 [GRCh38]
Chr20:62868707 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.216C>T (p.Ser72=) single nucleotide variant MYT1-related condition [RCV003947096] Chr20:64205619 [GRCh38]
Chr20:62836972 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.1869C>T (p.Ala623=) single nucleotide variant MYT1-related condition [RCV003924022] Chr20:64218933 [GRCh38]
Chr20:62850286 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.1866C>T (p.Asp622=) single nucleotide variant MYT1-related condition [RCV003964290] Chr20:64218930 [GRCh38]
Chr20:62850283 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.1161G>C (p.Leu387=) single nucleotide variant MYT1-related condition [RCV003919601] Chr20:64208357 [GRCh38]
Chr20:62839710 [GRCh37]
Chr20:20q13.33		 benign
NM_004535.3(MYT1):c.192C>T (p.Gly64=) single nucleotide variant MYT1-related condition [RCV003929546] Chr20:64205595 [GRCh38]
Chr20:62836948 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.2868C>T (p.His956=) single nucleotide variant MYT1-related condition [RCV003946862] Chr20:64232356 [GRCh38]
Chr20:62863709 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.886G>A (p.Glu296Lys) single nucleotide variant Inborn genetic diseases [RCV004369785]|MYT1-related condition [RCV003922126] Chr20:64208082 [GRCh38]
Chr20:62839435 [GRCh37]
Chr20:20q13.33		 likely benign|uncertain significance
NM_004535.3(MYT1):c.397+10C>T single nucleotide variant MYT1-related condition [RCV003909571] Chr20:64205810 [GRCh38]
Chr20:62837163 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.412A>G (p.Lys138Glu) single nucleotide variant MYT1-related condition [RCV003916891] Chr20:64207608 [GRCh38]
Chr20:62838961 [GRCh37]
Chr20:20q13.33		 likely benign
NM_004535.3(MYT1):c.1007C>T (p.Pro336Leu) single nucleotide variant Inborn genetic diseases [RCV004458280] Chr20:64208203 [GRCh38]
Chr20:62839556 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.1039C>T (p.Arg347Cys) single nucleotide variant Inborn genetic diseases [RCV004458285] Chr20:64208235 [GRCh38]
Chr20:62839588 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.1100C>T (p.Ser367Leu) single nucleotide variant Inborn genetic diseases [RCV004458291] Chr20:64208296 [GRCh38]
Chr20:62839649 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.1124G>A (p.Arg375Gln) single nucleotide variant Inborn genetic diseases [RCV004458297] Chr20:64208320 [GRCh38]
Chr20:62839673 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.254A>G (p.Glu85Gly) single nucleotide variant Inborn genetic diseases [RCV004460457] Chr20:64205657 [GRCh38]
Chr20:62837010 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.3130G>A (p.Glu1044Lys) single nucleotide variant Inborn genetic diseases [RCV004460463] Chr20:64239796 [GRCh38]
Chr20:62871149 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.2119A>G (p.Thr707Ala) single nucleotide variant Inborn genetic diseases [RCV004460427] Chr20:64219860 [GRCh38]
Chr20:62851213 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.2170C>T (p.Arg724Cys) single nucleotide variant Inborn genetic diseases [RCV004460440] Chr20:64219911 [GRCh38]
Chr20:62851264 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.2261C>G (p.Ser754Cys) single nucleotide variant Inborn genetic diseases [RCV004460443] Chr20:64221912 [GRCh38]
Chr20:62853265 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.112T>G (p.Ser38Ala) single nucleotide variant Inborn genetic diseases [RCV004458302] Chr20:64205060 [GRCh38]
Chr20:62836413 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_004535.3(MYT1):c.1915C>T (p.Arg639Cys) single nucleotide variant Inborn genetic diseases [RCV004458328] Chr20:64218979 [GRCh38]
Chr20:62850332 [GRCh37]
Chr20:20q13.33		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR27Ahsa-miR-27a-3pMirtarbaseexternal_infoWestern blot//Luciferase reporter assayFunctional MTI18006846
MIR27Ahsa-miR-27a-3pTarbaseexternal_infoOtherPOSITIVE

Predicted Target Of
Summary Value
Count of predictions:1609
Count of miRNA genes:619
Interacting mature miRNAs:699
Transcripts:ENST00000328439, ENST00000360149, ENST00000536311
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH10656  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372062,873,338 - 62,873,523UniSTSGRCh37
Build 362062,343,782 - 62,343,967RGDNCBI36
Celera2059,558,170 - 59,558,355RGD
Cytogenetic Map20q13.33UniSTS
HuRef2059,598,262 - 59,598,447UniSTS
SHGC-144519  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372062,852,417 - 62,852,731UniSTSGRCh37
Build 362062,322,861 - 62,323,175RGDNCBI36
Celera2059,537,249 - 59,537,563RGD
Cytogenetic Map20q13.33UniSTS
HuRef2059,577,337 - 59,577,651UniSTS
Z94630  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372062,846,847 - 62,846,926UniSTSGRCh37
Build 362062,317,291 - 62,317,370RGDNCBI36
Celera2059,531,710 - 59,531,789RGD
Cytogenetic Map20q13.33UniSTS
HuRef2059,571,850 - 59,571,929UniSTS
RH104288  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372062,858,802 - 62,859,373UniSTSGRCh37
Celera2059,543,634 - 59,544,205UniSTS
Cytogenetic Map20q13.33UniSTS
HuRef2059,583,722 - 59,584,293UniSTS


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
High
Medium 9 136 4 4 4 713 9 17 60
Low 196 23 1009 48 254 49 237 30 2335 65 528 627 1 1 4 14
Below cutoff 2043 2339 436 393 1395 278 3181 1845 472 214 755 748 119 957 2095 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000328439   ⟹   ENSP00000327465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2064,164,452 - 64,242,253 (+)Ensembl
RefSeq Acc Id: ENST00000360149   ⟹   ENSP00000353269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2064,151,791 - 64,228,100 (+)Ensembl
RefSeq Acc Id: ENST00000536311   ⟹   ENSP00000442412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2064,164,474 - 64,242,251 (+)Ensembl
RefSeq Acc Id: ENST00000610671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2064,164,612 - 64,191,884 (+)Ensembl
RefSeq Acc Id: ENST00000622439   ⟹   ENSP00000480510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2064,164,474 - 64,228,035 (+)Ensembl
RefSeq Acc Id: ENST00000644172   ⟹   ENSP00000493561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2064,102,394 - 64,198,916 (+)Ensembl
RefSeq Acc Id: ENST00000650655   ⟹   ENSP00000498616
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2064,164,566 - 64,242,248 (+)Ensembl
RefSeq Acc Id: ENST00000659024   ⟹   ENSP00000499493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2064,102,394 - 64,228,102 (+)Ensembl
RefSeq Acc Id: NM_004535   ⟹   NP_004526
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382064,164,452 - 64,242,253 (+)NCBI
GRCh372062,795,827 - 62,873,606 (+)ENTREZGENE
Build 362062,266,271 - 62,344,050 (+)NCBI Archive
HuRef2059,521,605 - 59,598,530 (+)ENTREZGENE
CHM1_12062,696,840 - 62,774,541 (+)NCBI
T2T-CHM13v2.02065,983,955 - 66,063,029 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_004526   ⟸   NM_004535
- UniProtKB: Q7Z5W2 (UniProtKB/Swiss-Prot),   O94922 (UniProtKB/Swiss-Prot),   F5H7M8 (UniProtKB/Swiss-Prot),   E1P5H0 (UniProtKB/Swiss-Prot),   Q9UPV2 (UniProtKB/Swiss-Prot),   Q01538 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000480510   ⟸   ENST00000622439
RefSeq Acc Id: ENSP00000353269   ⟸   ENST00000360149
RefSeq Acc Id: ENSP00000498616   ⟸   ENST00000650655
RefSeq Acc Id: ENSP00000442412   ⟸   ENST00000536311
RefSeq Acc Id: ENSP00000327465   ⟸   ENST00000328439
RefSeq Acc Id: ENSP00000493561   ⟸   ENST00000644172
RefSeq Acc Id: ENSP00000499493   ⟸   ENST00000659024
Protein Domains
Myelin transcription factor

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q01538-F1-model_v2 AlphaFold Q01538 1-1121 view protein structure

Promoters
RGD ID:6812063
Promoter ID:HG_ACW:50101
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:MYT1.EAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 362062,322,861 - 62,323,361 (+)MPROMDB
RGD ID:13602490
Promoter ID:EPDNEW_H27429
Type:initiation region
Name:MYT1_1
Description:myelin transcription factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27428  EPDNEW_H27430  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382064,164,452 - 64,164,512EPDNEW
RGD ID:13602492
Promoter ID:EPDNEW_H27430
Type:initiation region
Name:MYT1_3
Description:myelin transcription factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27428  EPDNEW_H27429  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382064,164,606 - 64,164,666EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7622 AgrOrtholog
COSMIC MYT1 COSMIC
Ensembl Genes ENSG00000196132 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000276876 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000328439 ENTREZGENE
  ENST00000328439.6 UniProtKB/Swiss-Prot
  ENST00000360149.9 UniProtKB/TrEMBL
  ENST00000536311.5 UniProtKB/Swiss-Prot
  ENST00000613234.3 UniProtKB/Swiss-Prot
  ENST00000616597.4 UniProtKB/TrEMBL
  ENST00000616648.2 UniProtKB/Swiss-Prot
  ENST00000621996.4 UniProtKB/TrEMBL
  ENST00000622439.4 UniProtKB/TrEMBL
  ENST00000644172.2 UniProtKB/TrEMBL
  ENST00000650655.1 UniProtKB/Swiss-Prot
  ENST00000659024.1 UniProtKB/TrEMBL
Gene3D-CATH 4.10.320.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000196132 GTEx
  ENSG00000276876 GTEx
HGNC ID HGNC:7622 ENTREZGENE
Human Proteome Map MYT1 Human Proteome Map
InterPro Myelin_TF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4661 UniProtKB/Swiss-Prot
NCBI Gene 4661 ENTREZGENE
OMIM 600379 OMIM
PANTHER MYELIN TRANSCRIPTION FACTOR 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MYELIN TRANSCRIPTION FACTOR 1-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MYT1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C2HC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31426 PharmGKB
PROSITE ZF_CCHHC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF103637 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y3S5_HUMAN UniProtKB/TrEMBL
  E1P5H0 ENTREZGENE
  F5H7M8 ENTREZGENE
  MYT1_HUMAN UniProtKB/Swiss-Prot
  O94922 ENTREZGENE
  Q01538 ENTREZGENE
  Q6P6D5_HUMAN UniProtKB/TrEMBL
  Q7Z5W2 ENTREZGENE
  Q9UPV2 ENTREZGENE
UniProt Secondary E1P5H0 UniProtKB/Swiss-Prot
  F5H7M8 UniProtKB/Swiss-Prot
  O94922 UniProtKB/Swiss-Prot
  Q7Z5W2 UniProtKB/Swiss-Prot
  Q9UPV2 UniProtKB/Swiss-Prot