SOX18 (SRY-box transcription factor 18) - Rat Genome Database

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Gene: SOX18 (SRY-box transcription factor 18) Homo sapiens
Analyze
Symbol: SOX18
Name: SRY-box transcription factor 18
RGD ID: 1323321
HGNC Page HGNC:11194
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 several processes, including establishment of endothelial barrier; regulation of transcription by RNA polymerase II; and vasculature development. Located in nucleus. Part of chromatin. Implicated in hypotrichosis-lymphedema-telangiectasia syndrome and hypotrichosis-lymphedema-telangiectasia-renal defect syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: HLTRS; HLTS; SRY (sex determining region Y)-box 18; SRY box 18; SRY-box 18; transcription factor SOX-18
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
GRCh382064,047,582 - 64,049,639 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2064,047,582 - 64,049,639 (-)EnsemblGRCh38hg38GRCh38
GRCh372062,678,935 - 62,680,992 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362062,149,523 - 62,151,423 (-)NCBINCBI36Build 36hg18NCBI36
Build 342062,149,524 - 62,151,423NCBI
Celera2059,365,185 - 59,367,085 (-)NCBICelera
Cytogenetic Map20q13.33NCBI
HuRef2059,413,178 - 59,414,764 (-)NCBIHuRef
CHM1_12062,580,086 - 62,582,001 (-)NCBICHM1_1
T2T-CHM13v2.02065,867,606 - 65,869,664 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(1->4)-beta-D-glucan  (ISO)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
Aroclor 1254  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dioxygen  (ISO)
folic acid  (ISO)
glycidol  (ISO)
graphite  (ISO)
GW 4064  (ISO)
hesperetin  (ISO)
hydrogen peroxide  (EXP)
indometacin  (EXP)
iron dichloride  (EXP)
kenpaullone  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
mercury atom  (EXP)
mercury(0)  (EXP)
methamphetamine  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
nickel dichloride  (EXP)
nicotine  (ISO)
orphenadrine  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
permethrin  (EXP)
phosgene  (ISO)
reactive oxygen species  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
SCH 23390  (ISO)
silicon dioxide  (ISO)
Soman  (ISO)
sulfadimethoxine  (ISO)
temozolomide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thimerosal  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
triphenyl phosphate  (ISO)
triptonide  (ISO)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (IDA,ISA)
nucleus  (IBA,IDA,IEA)
transcription regulator complex  (IEA)

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. Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. Irrthum A, etal., Am J Hum Genet. 2003 Jun;72(6):1470-8. Epub 2003 May 8.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1614875   PMID:7665083   PMID:10807548   PMID:10858556   PMID:11130989   PMID:11554755   PMID:11748221   PMID:11780052   PMID:12100890   PMID:12165811   PMID:12194848   PMID:12477932  
PMID:15489334   PMID:16179596   PMID:16882943   PMID:18065521   PMID:18496767   PMID:18564920   PMID:18564921   PMID:19274049   PMID:21796627   PMID:21873635   PMID:21988832   PMID:22018271  
PMID:22292085   PMID:24065215   PMID:24269235   PMID:24460943   PMID:24697860   PMID:25310193   PMID:26148450   PMID:26151573   PMID:26396173   PMID:26573263   PMID:26588701   PMID:27108946  
PMID:27127146   PMID:27663663   PMID:27666488   PMID:27757173   PMID:27922675   PMID:28218735   PMID:28473536   PMID:29115529   PMID:29115856   PMID:29266413   PMID:29307792   PMID:29408481  
PMID:29749465   PMID:30335167   PMID:31189744   PMID:31260682   PMID:31427562   PMID:31529503   PMID:31825847   PMID:32196572   PMID:32319559   PMID:32419535   PMID:32518203   PMID:32616889  
PMID:32662888   PMID:32703403   PMID:32858034   PMID:33851505   PMID:34570228   PMID:35559673   PMID:35973513   PMID:36053455   PMID:36732767   PMID:38421701  


Genomics

Comparative Map Data
SOX18
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382064,047,582 - 64,049,639 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2064,047,582 - 64,049,639 (-)EnsemblGRCh38hg38GRCh38
GRCh372062,678,935 - 62,680,992 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362062,149,523 - 62,151,423 (-)NCBINCBI36Build 36hg18NCBI36
Build 342062,149,524 - 62,151,423NCBI
Celera2059,365,185 - 59,367,085 (-)NCBICelera
Cytogenetic Map20q13.33NCBI
HuRef2059,413,178 - 59,414,764 (-)NCBIHuRef
CHM1_12062,580,086 - 62,582,001 (-)NCBICHM1_1
T2T-CHM13v2.02065,867,606 - 65,869,664 (-)NCBIT2T-CHM13v2.0
Sox18
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392181,311,630 - 181,313,433 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2181,311,629 - 181,313,433 (-)EnsemblGRCm39 Ensembl
GRCm382181,669,837 - 181,671,640 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2181,669,836 - 181,671,640 (-)EnsemblGRCm38mm10GRCm38
MGSCv372181,404,542 - 181,406,345 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362181,599,249 - 181,601,015 (-)NCBIMGSCv36mm8
Celera2185,752,229 - 185,754,032 (-)NCBICelera
Cytogenetic Map2H4NCBI
cM Map2103.71NCBI
Sox18
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83189,163,000 - 189,164,802 (-)NCBIGRCr8
mRatBN7.23168,785,488 - 168,787,290 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3168,785,490 - 168,787,290 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3173,164,968 - 173,166,742 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03182,124,059 - 182,125,833 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03178,786,438 - 178,788,234 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03177,177,237 - 177,179,039 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3177,177,310 - 177,179,127 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03180,885,768 - 180,887,570 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43170,820,460 - 170,822,262 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13170,726,497 - 170,728,298 (-)NCBI
Celera3163,800,470 - 163,802,272 (+)NCBICelera
Cytogenetic Map3q43NCBI
Sox18
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955528204,729 - 206,772 (+)NCBIChiLan1.0ChiLan1.0
SOX18
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22169,865,334 - 69,867,256 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12069,857,345 - 69,859,266 (-)NCBINHGRI_mPanPan1
SOX18
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12447,494,581 - 47,496,563 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2447,494,902 - 47,496,970 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2446,628,401 - 46,630,374 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02448,633,494 - 48,635,467 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2448,633,492 - 48,635,406 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12447,478,102 - 47,480,075 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02447,602,566 - 47,604,541 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02448,341,512 - 48,343,485 (-)NCBIUU_Cfam_GSD_1.0
Sox18
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640195,777,684 - 195,779,662 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493651411,231,305 - 11,233,337 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493651411,231,327 - 11,233,292 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SOX18
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1762,869,870 - 62,871,748 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11762,869,868 - 62,871,758 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SOX18
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12195,418 - 197,221 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605047,629,355 - 47,631,408 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sox18
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474129,679,091 - 29,681,049 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474129,679,274 - 29,681,069 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SOX18
98 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_018419.3(SOX18):c.130GCGCCCGCC[1] (p.44APA[1]) microsatellite not provided [RCV000723094] Chr20:64049370..64049378 [GRCh38]
Chr20:62680723..62680731 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.310G>C (p.Ala104Pro) single nucleotide variant Hypotrichosis-lymphedema-telangiectasia syndrome [RCV000008464] Chr20:64049207 [GRCh38]
Chr20:62680560 [GRCh37]
Chr20:20q13.33		 pathogenic
NM_018419.3(SOX18):c.283T>A (p.Trp95Arg) single nucleotide variant Hypotrichosis-lymphedema-telangiectasia syndrome [RCV000008465] Chr20:64049234 [GRCh38]
Chr20:62680587 [GRCh37]
Chr20:20q13.33		 pathogenic
NM_018419.3(SOX18):c.720C>A (p.Cys240Ter) single nucleotide variant Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome [RCV000008466] Chr20:64048601 [GRCh38]
Chr20:62679954 [GRCh37]
Chr20:20q13.33		 pathogenic
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(chr20:63827808-64100279)x3 copy number gain See cases [RCV000050998] Chr20:63827808..64100279 [GRCh38]
Chr20:62459161..62731632 [GRCh37]
Chr20:61929605..62202076 [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 20q13.12-13.33(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
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(chr20:62561794-64277321)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 20q13.32-13.33(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 20q13.2-13.33(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
NM_018419.3(SOX18):c.481C>T (p.Gln161Ter) single nucleotide variant Hypotrichosis-lymphedema-telangiectasia syndrome [RCV000184062]|not provided [RCV003556198] Chr20:64048840 [GRCh38]
Chr20:62680193 [GRCh37]
Chr20:20q13.33		 pathogenic|likely pathogenic
GRCh37/hg19 20q13.33(chr20:61827144-62907526)x1 copy number loss See cases [RCV000240214] Chr20:61827144..62907526 [GRCh37]
Chr20:20q13.33		 pathogenic
NM_018419.3(SOX18):c.801G>A (p.Ala267=) single nucleotide variant not provided [RCV000958109]|not specified [RCV000246240] Chr20:64048520 [GRCh38]
Chr20:62679873 [GRCh37]
Chr20:20q13.33		 benign
NM_018419.3(SOX18):c.243C>T (p.Asp81=) single nucleotide variant Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome [RCV002503945]|not provided [RCV000970761]|not specified [RCV000249216] Chr20:64049274 [GRCh38]
Chr20:62680627 [GRCh37]
Chr20:20q13.33		 benign|likely benign
NM_018419.3(SOX18):c.358+34A>C single nucleotide variant not provided [RCV001640560]|not specified [RCV000253994] Chr20:64049125 [GRCh38]
Chr20:62680478 [GRCh37]
Chr20:20q13.33		 benign
NM_018419.3(SOX18):c.765_766delinsTT (p.Arg256Trp) indel not provided [RCV000723085] Chr20:64048555..64048556 [GRCh38]
Chr20:62679908..62679909 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.33(chr20:61337529-62904501)x1 copy number loss not provided [RCV000488148] Chr20:61337529..62904501 [GRCh37]
Chr20:20q13.33		 likely pathogenic
NM_018419.3(SOX18):c.712G>T (p.Glu238Ter) single nucleotide variant Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome [RCV000590995] Chr20:64048609 [GRCh38]
Chr20:62679962 [GRCh37]
Chr20:20q13.33		 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(chr20:62662139-62714797)x1 copy number loss See cases [RCV000447557] Chr20:62662139..62714797 [GRCh37]
Chr20:20q13.33		 likely 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(chr20:61884113-62915555)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
NM_018419.3(SOX18):c.155C>G (p.Pro52Arg) single nucleotide variant Inborn genetic diseases [RCV003242463] Chr20:64049362 [GRCh38]
Chr20:62680715 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.164A>C (p.Gln55Pro) single nucleotide variant Inborn genetic diseases [RCV003242464] Chr20:64049353 [GRCh38]
Chr20:62680706 [GRCh37]
Chr20:20q13.33		 likely benign
NM_018419.3(SOX18):c.148T>G (p.Ser50Ala) single nucleotide variant Inborn genetic diseases [RCV003279336] Chr20:64049369 [GRCh38]
Chr20:62680722 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.392A>G (p.Lys131Arg) single nucleotide variant Inborn genetic diseases [RCV003261815] Chr20:64048929 [GRCh38]
Chr20:62680282 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.93C>G (p.Asp31Glu) single nucleotide variant Inborn genetic diseases [RCV003242465] Chr20:64049424 [GRCh38]
Chr20:62680777 [GRCh37]
Chr20:20q13.33		 likely benign
NM_018419.3(SOX18):c.812G>A (p.Arg271Lys) single nucleotide variant Inborn genetic diseases [RCV003241222] Chr20:64048509 [GRCh38]
Chr20:62679862 [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(chr20:62603908-62857300)x1 copy number loss See cases [RCV000512532] Chr20:62603908..62857300 [GRCh37]
Chr20:20q13.33		 uncertain significance
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(chr20:62002369-62915555)x1 copy number loss not provided [RCV000684126] Chr20:62002369..62915555 [GRCh37]
Chr20:20q13.33		 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(chr20:62678476-62683983)x1 copy number loss not provided [RCV000741400] Chr20:62678476..62683983 [GRCh37]
Chr20:20q13.33		 benign
GRCh37/hg19 20q13.33(chr20:62679468-62681617)x0 copy number loss not provided [RCV000741401] Chr20:62679468..62681617 [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
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_018419.3(SOX18):c.483_490del (p.Ala162fs) deletion not provided [RCV001543493] Chr20:64048831..64048838 [GRCh38]
Chr20:62680184..62680191 [GRCh37]
Chr20:20q13.33		 likely pathogenic
NM_018419.3(SOX18):c.1014C>G (p.Pro338=) single nucleotide variant Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome [RCV002502889]|not provided [RCV000943765] Chr20:64048307 [GRCh38]
Chr20:62679660 [GRCh37]
Chr20:20q13.33		 likely benign
NM_018419.3(SOX18):c.999C>T (p.Cys333=) single nucleotide variant not provided [RCV000905246] Chr20:64048322 [GRCh38]
Chr20:62679675 [GRCh37]
Chr20:20q13.33		 likely benign
NM_018419.3(SOX18):c.409G>A (p.Glu137Lys) single nucleotide variant SOX18-related condition [RCV003955809]|not provided [RCV000880532] Chr20:64048912 [GRCh38]
Chr20:62680265 [GRCh37]
Chr20:20q13.33		 benign|likely benign
NM_018419.3(SOX18):c.72G>C (p.Pro24=) single nucleotide variant not provided [RCV000926526] Chr20:64049445 [GRCh38]
Chr20:62680798 [GRCh37]
Chr20:20q13.33		 likely benign
NM_018419.3(SOX18):c.844C>T (p.Leu282=) single nucleotide variant not provided [RCV000980631] Chr20:64048477 [GRCh38]
Chr20:62679830 [GRCh37]
Chr20:20q13.33		 likely benign
GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3 copy number gain not provided [RCV001007098] Chr20:56788101..62762405 [GRCh37]
Chr20:20q13.32-13.33		 pathogenic
GRCh37/hg19 20q13.33(chr20:61152321-62915555)x1 copy number loss not provided [RCV001007103] Chr20:61152321..62915555 [GRCh37]
Chr20:20q13.33		 pathogenic
NM_018419.3(SOX18):c.354G>T (p.Met118Ile) single nucleotide variant Inborn genetic diseases [RCV003240322] Chr20:64049163 [GRCh38]
Chr20:62680516 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.536C>T (p.Pro179Leu) single nucleotide variant not provided [RCV003234320] Chr20:64048785 [GRCh38]
Chr20:62680138 [GRCh37]
Chr20:20q13.33		 uncertain significance
NC_000020.10:g.(?_60831241)_(62680869_?)dup duplication Developmental and epileptic encephalopathy, 33 [RCV003107566]|Early infantile epileptic encephalopathy with suppression bursts [RCV003122564] Chr20:60831241..62680869 [GRCh37]
Chr20:20q13.33		 uncertain significance
NC_000020.11:g.64049808C>T single nucleotide variant not provided [RCV001608648] Chr20:64049808 [GRCh38]
Chr20:62681161 [GRCh37]
Chr20:20q13.33		 benign
NM_018419.3(SOX18):c.1149C>T (p.Ser383=) single nucleotide variant Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome [RCV002502849]|not provided [RCV000932281] Chr20:64048172 [GRCh38]
Chr20:62679525 [GRCh37]
Chr20:20q13.33		 likely benign
NM_018419.3(SOX18):c.94A>C (p.Thr32Pro) single nucleotide variant Inborn genetic diseases [RCV003242466] Chr20:64049423 [GRCh38]
Chr20:62680776 [GRCh37]
Chr20:20q13.33		 likely benign
NM_018419.3(SOX18):c.106G>C (p.Ala36Pro) single nucleotide variant Inborn genetic diseases [RCV003242461] Chr20:64049411 [GRCh38]
Chr20:62680764 [GRCh37]
Chr20:20q13.33		 likely benign
NM_018419.3(SOX18):c.113G>C (p.Gly38Ala) single nucleotide variant Inborn genetic diseases [RCV003242462] Chr20:64049404 [GRCh38]
Chr20:62680757 [GRCh37]
Chr20:20q13.33		 likely benign
NM_018419.3(SOX18):c.*82T>C single nucleotide variant not provided [RCV001644438] Chr20:64048084 [GRCh38]
Chr20:62679437 [GRCh37]
Chr20:20q13.33		 benign
NM_018419.3(SOX18):c.*127G>A single nucleotide variant not provided [RCV001648040] Chr20:64048039 [GRCh38]
Chr20:62679392 [GRCh37]
Chr20:20q13.33		 benign
NM_018419.3(SOX18):c.505G>T (p.Glu169Ter) single nucleotide variant not provided [RCV001045039] Chr20:64048816 [GRCh38]
Chr20:62680169 [GRCh37]
Chr20:20q13.33		 uncertain significance
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
NM_018419.3(SOX18):c.911C>A (p.Pro304Gln) single nucleotide variant not provided [RCV001092641] Chr20:64048410 [GRCh38]
Chr20:62679763 [GRCh37]
Chr20:20q13.33		 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
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_018419.3(SOX18):c.521T>C (p.Leu174Pro) single nucleotide variant not provided [RCV002254055] Chr20:64048800 [GRCh38]
Chr20:62680153 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.1105C>G (p.Leu369Val) single nucleotide variant not provided [RCV002254438] Chr20:64048216 [GRCh38]
Chr20:62679569 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.33(chr20:61041481-62680992) copy number loss Seizures, benign familial neonatal, 1 [RCV001786555] Chr20:61041481..62680992 [GRCh37]
Chr20:20q13.33		 likely pathogenic
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(chr20:61619222-62915555) copy number loss not specified [RCV002052718] Chr20:61619222..62915555 [GRCh37]
Chr20:20q13.33		 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(chr20:60473339-62915555) copy number gain not specified [RCV002052714] Chr20:60473339..62915555 [GRCh37]
Chr20:20q13.33		 uncertain significance
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
GRCh37/hg19 20q13.33(chr20:61775756-62915555)x1 copy number loss not provided [RCV001834246] Chr20:61775756..62915555 [GRCh37]
Chr20:20q13.33		 pathogenic
NM_018419.3(SOX18):c.991C>T (p.Leu331Phe) single nucleotide variant Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome [RCV001837049] Chr20:64048330 [GRCh38]
Chr20:62679683 [GRCh37]
Chr20:20q13.33		 likely benign
NC_000020.10:g.(?_62559699)_(62680869_?)dup duplication not provided [RCV003116615] Chr20:62559699..62680869 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.877_888del (p.Tyr293_Pro296del) deletion not provided [RCV003122018] Chr20:64048433..64048444 [GRCh38]
Chr20:62679786..62679797 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.870C>T (p.Pro290=) single nucleotide variant not provided [RCV003121120] Chr20:64048451 [GRCh38]
Chr20:62679804 [GRCh37]
Chr20:20q13.33		 likely benign
NM_018419.3(SOX18):c.80G>A (p.Gly27Glu) single nucleotide variant not provided [RCV002297203] Chr20:64049437 [GRCh38]
Chr20:62680790 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3 copy number gain not provided [RCV002473575] Chr20:60621074..62915555 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.239C>T (p.Ala80Val) single nucleotide variant Inborn genetic diseases [RCV002841156] Chr20:64049278 [GRCh38]
Chr20:62680631 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.233A>T (p.Gln78Leu) single nucleotide variant Inborn genetic diseases [RCV002990194] Chr20:64049284 [GRCh38]
Chr20:62680637 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.853G>C (p.Gly285Arg) single nucleotide variant Inborn genetic diseases [RCV003170741]|not provided [RCV002971242] Chr20:64048468 [GRCh38]
Chr20:62679821 [GRCh37]
Chr20:20q13.33		 likely benign|uncertain significance
NM_018419.3(SOX18):c.961G>A (p.Asp321Asn) single nucleotide variant not provided [RCV002907892] Chr20:64048360 [GRCh38]
Chr20:62679713 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.1048G>A (p.Ala350Thr) single nucleotide variant not provided [RCV002994581] Chr20:64048273 [GRCh38]
Chr20:62679626 [GRCh37]
Chr20:20q13.33		 likely benign
NM_018419.3(SOX18):c.238G>C (p.Ala80Pro) single nucleotide variant Inborn genetic diseases [RCV002841155] Chr20:64049279 [GRCh38]
Chr20:62680632 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.112G>T (p.Gly38Cys) single nucleotide variant not provided [RCV002972430] Chr20:64049405 [GRCh38]
Chr20:62680758 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.664G>C (p.Gly222Arg) single nucleotide variant Inborn genetic diseases [RCV002708248]|not provided [RCV003730269] Chr20:64048657 [GRCh38]
Chr20:62680010 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.619T>A (p.Phe207Ile) single nucleotide variant Inborn genetic diseases [RCV002910763] Chr20:64048702 [GRCh38]
Chr20:62680055 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.951T>A (p.Asp317Glu) single nucleotide variant not provided [RCV003021805] Chr20:64048370 [GRCh38]
Chr20:62679723 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.194G>A (p.Gly65Glu) single nucleotide variant not provided [RCV003021806] Chr20:64049323 [GRCh38]
Chr20:62680676 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.328C>T (p.Leu110=) single nucleotide variant not provided [RCV002736557] Chr20:64049189 [GRCh38]
Chr20:62680542 [GRCh37]
Chr20:20q13.33		 likely benign
NM_018419.3(SOX18):c.359G>A (p.Gly120Asp) single nucleotide variant Inborn genetic diseases [RCV002783002] Chr20:64048962 [GRCh38]
Chr20:62680315 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.1065C>A (p.Arg355=) single nucleotide variant not provided [RCV002735219] Chr20:64048256 [GRCh38]
Chr20:62679609 [GRCh37]
Chr20:20q13.33		 likely benign
NM_018419.3(SOX18):c.358+16G>A single nucleotide variant not provided [RCV002795523] Chr20:64049143 [GRCh38]
Chr20:62680496 [GRCh37]
Chr20:20q13.33		 likely benign
NM_018419.3(SOX18):c.73G>C (p.Gly25Arg) single nucleotide variant Inborn genetic diseases [RCV002854569] Chr20:64049444 [GRCh38]
Chr20:62680797 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.41C>T (p.Pro14Leu) single nucleotide variant Inborn genetic diseases [RCV002891694] Chr20:64049476 [GRCh38]
Chr20:62680829 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.970C>A (p.Leu324Ile) single nucleotide variant not provided [RCV003023092] Chr20:64048351 [GRCh38]
Chr20:62679704 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.632G>A (p.Gly211Glu) single nucleotide variant Inborn genetic diseases [RCV002873316] Chr20:64048689 [GRCh38]
Chr20:62680042 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.477G>C (p.Lys159Asn) single nucleotide variant not provided [RCV002801244] Chr20:64048844 [GRCh38]
Chr20:62680197 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.955T>C (p.Trp319Arg) single nucleotide variant not provided [RCV002918637] Chr20:64048366 [GRCh38]
Chr20:62679719 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.67G>A (p.Ala23Thr) single nucleotide variant not provided [RCV002675734] Chr20:64049450 [GRCh38]
Chr20:62680803 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.601C>T (p.Pro201Ser) single nucleotide variant Inborn genetic diseases [RCV003063616]|not provided [RCV003063615] Chr20:64048720 [GRCh38]
Chr20:62680073 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.26G>A (p.Gly9Asp) single nucleotide variant not provided [RCV003086648] Chr20:64049491 [GRCh38]
Chr20:62680844 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.71C>A (p.Pro24Gln) single nucleotide variant Inborn genetic diseases [RCV004068195]|not provided [RCV002961925] Chr20:64049446 [GRCh38]
Chr20:62680799 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.605C>G (p.Pro202Arg) single nucleotide variant Inborn genetic diseases [RCV002934082] Chr20:64048716 [GRCh38]
Chr20:62680069 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.853G>A (p.Gly285Ser) single nucleotide variant not provided [RCV002650974] Chr20:64048468 [GRCh38]
Chr20:62679821 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.530T>G (p.Leu177Ter) single nucleotide variant not provided [RCV002811178] Chr20:64048791 [GRCh38]
Chr20:62680144 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.700C>T (p.Pro234Ser) single nucleotide variant Inborn genetic diseases [RCV002960964] Chr20:64048621 [GRCh38]
Chr20:62679974 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.940C>T (p.Pro314Ser) single nucleotide variant Inborn genetic diseases [RCV002748226] Chr20:64048381 [GRCh38]
Chr20:62679734 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.766C>T (p.Arg256Trp) single nucleotide variant Bladder exstrophy-epispadias-cloacal extrophy complex [RCV003389414]|not provided [RCV002632207] Chr20:64048555 [GRCh38]
Chr20:62679908 [GRCh37]
Chr20:20q13.33		 benign|uncertain significance
NM_018419.3(SOX18):c.77A>C (p.His26Pro) single nucleotide variant Inborn genetic diseases [RCV002652475] Chr20:64049440 [GRCh38]
Chr20:62680793 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.548C>T (p.Pro183Leu) single nucleotide variant Inborn genetic diseases [RCV002657481]|not provided [RCV003730362] Chr20:64048773 [GRCh38]
Chr20:62680126 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.1047G>A (p.Leu349=) single nucleotide variant SOX18-related condition [RCV003961087]|not provided [RCV002634455] Chr20:64048274 [GRCh38]
Chr20:62679627 [GRCh37]
Chr20:20q13.33		 likely benign
NM_018419.3(SOX18):c.88G>T (p.Ala30Ser) single nucleotide variant Inborn genetic diseases [RCV003186163] Chr20:64049429 [GRCh38]
Chr20:62680782 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.682G>A (p.Ala228Thr) single nucleotide variant Inborn genetic diseases [RCV003206328] Chr20:64048639 [GRCh38]
Chr20:62679992 [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_018419.3(SOX18):c.1043C>T (p.Ala348Val) single nucleotide variant Inborn genetic diseases [RCV003357625] Chr20:64048278 [GRCh38]
Chr20:62679631 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.748G>A (p.Ala250Thr) single nucleotide variant Inborn genetic diseases [RCV003364410] Chr20:64048573 [GRCh38]
Chr20:62679926 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.208A>G (p.Ser70Gly) single nucleotide variant Inborn genetic diseases [RCV003383902] Chr20:64049309 [GRCh38]
Chr20:62680662 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.5A>G (p.Gln2Arg) single nucleotide variant Inborn genetic diseases [RCV003371368] Chr20:64049512 [GRCh38]
Chr20:62680865 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.33(chr20:61986902-62690224)x3 copy number gain not provided [RCV003485217] Chr20:61986902..62690224 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.819G>A (p.Ala273=) single nucleotide variant not provided [RCV003431446] Chr20:64048502 [GRCh38]
Chr20:62679855 [GRCh37]
Chr20:20q13.33		 likely benign
GRCh37/hg19 20q13.33(chr20:62347562-62915555)x1 copy number loss not provided [RCV003483370] Chr20:62347562..62915555 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.703G>A (p.Ala235Thr) single nucleotide variant not provided [RCV003440518] Chr20:64048618 [GRCh38]
Chr20:62679971 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.940C>A (p.Pro314Thr) single nucleotide variant not provided [RCV003695434] Chr20:64048381 [GRCh38]
Chr20:62679734 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.358+18G>A single nucleotide variant not provided [RCV003827758] Chr20:64049141 [GRCh38]
Chr20:62680494 [GRCh37]
Chr20:20q13.33		 likely benign
NM_018419.3(SOX18):c.519G>C (p.Leu173=) single nucleotide variant not provided [RCV003580177] Chr20:64048802 [GRCh38]
Chr20:62680155 [GRCh37]
Chr20:20q13.33		 likely benign
NM_018419.3(SOX18):c.1010G>A (p.Arg337Gln) single nucleotide variant not provided [RCV003558318] Chr20:64048311 [GRCh38]
Chr20:62679664 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.553G>C (p.Glu185Gln) single nucleotide variant not provided [RCV003558272] Chr20:64048768 [GRCh38]
Chr20:62680121 [GRCh37]
Chr20:20q13.33		 benign
NM_018419.3(SOX18):c.167G>T (p.Arg56Leu) single nucleotide variant not provided [RCV003548798] Chr20:64049350 [GRCh38]
Chr20:62680703 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.39C>T (p.Asp13=) single nucleotide variant SOX18-related condition [RCV003956578]|not provided [RCV003811516] Chr20:64049478 [GRCh38]
Chr20:62680831 [GRCh37]
Chr20:20q13.33		 likely benign
NM_018419.3(SOX18):c.709C>A (p.Pro237Thr) single nucleotide variant not provided [RCV003659105] Chr20:64048612 [GRCh38]
Chr20:62679965 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.132G>C (p.Ala44=) single nucleotide variant not provided [RCV003814035] Chr20:64049385 [GRCh38]
Chr20:62680738 [GRCh37]
Chr20:20q13.33		 likely benign
NM_018419.3(SOX18):c.134C>T (p.Pro45Leu) single nucleotide variant not provided [RCV003733659] Chr20:64049383 [GRCh38]
Chr20:62680736 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.1124C>G (p.Ala375Gly) single nucleotide variant not provided [RCV003542147] Chr20:64048197 [GRCh38]
Chr20:62679550 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.220C>T (p.Arg74Cys) single nucleotide variant not provided [RCV003704732] Chr20:64049297 [GRCh38]
Chr20:62680650 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.797T>G (p.Leu266Arg) single nucleotide variant not provided [RCV003864393] Chr20:64048524 [GRCh38]
Chr20:62679877 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.822C>G (p.Pro274=) single nucleotide variant not provided [RCV003719525] Chr20:64048499 [GRCh38]
Chr20:62679852 [GRCh37]
Chr20:20q13.33		 likely benign
NM_018419.3(SOX18):c.666C>T (p.Gly222=) single nucleotide variant not provided [RCV003844707] Chr20:64048655 [GRCh38]
Chr20:62680008 [GRCh37]
Chr20:20q13.33		 likely benign
NM_018419.3(SOX18):c.1034A>G (p.Tyr345Cys) single nucleotide variant not provided [RCV003863579] Chr20:64048287 [GRCh38]
Chr20:62679640 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.687C>T (p.Ala229=) single nucleotide variant not provided [RCV003848529] Chr20:64048634 [GRCh38]
Chr20:62679987 [GRCh37]
Chr20:20q13.33		 likely benign
NM_018419.3(SOX18):c.1037A>T (p.His346Leu) single nucleotide variant not provided [RCV003675481] Chr20:64048284 [GRCh38]
Chr20:62679637 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.37G>A (p.Asp13Asn) single nucleotide variant not provided [RCV003555446] Chr20:64049480 [GRCh38]
Chr20:62680833 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.975C>T (p.Thr325=) single nucleotide variant not provided [RCV003820094] Chr20:64048346 [GRCh38]
Chr20:62679699 [GRCh37]
Chr20:20q13.33		 likely benign
NM_018419.3(SOX18):c.696A>T (p.Pro232=) single nucleotide variant not provided [RCV003707002] Chr20:64048625 [GRCh38]
Chr20:62679978 [GRCh37]
Chr20:20q13.33		 likely benign
NM_018419.3(SOX18):c.857C>T (p.Thr286Ile) single nucleotide variant not provided [RCV003820145] Chr20:64048464 [GRCh38]
Chr20:62679817 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.858C>T (p.Thr286=) single nucleotide variant SOX18-related condition [RCV003914020] Chr20:64048463 [GRCh38]
Chr20:62679816 [GRCh37]
Chr20:20q13.33		 likely benign
NM_018419.3(SOX18):c.894G>A (p.Ser298=) single nucleotide variant SOX18-related condition [RCV003921718] Chr20:64048427 [GRCh38]
Chr20:62679780 [GRCh37]
Chr20:20q13.33		 likely benign
NM_018419.3(SOX18):c.142C>T (p.Pro48Ser) single nucleotide variant Inborn genetic diseases [RCV004457590] Chr20:64049375 [GRCh38]
Chr20:62680728 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.17C>T (p.Pro6Leu) single nucleotide variant Inborn genetic diseases [RCV004457591] Chr20:64049500 [GRCh38]
Chr20:62680853 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.541C>G (p.Gln181Glu) single nucleotide variant Inborn genetic diseases [RCV004457596] Chr20:64048780 [GRCh38]
Chr20:62680133 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.224G>C (p.Gly75Ala) single nucleotide variant Inborn genetic diseases [RCV004457593] Chr20:64049293 [GRCh38]
Chr20:62680646 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.1115C>T (p.Ala372Val) single nucleotide variant Inborn genetic diseases [RCV004457589] Chr20:64048206 [GRCh38]
Chr20:62679559 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.197G>C (p.Arg66Pro) single nucleotide variant Inborn genetic diseases [RCV004457592] Chr20:64049320 [GRCh38]
Chr20:62680673 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.351G>C (p.Lys117Asn) single nucleotide variant Inborn genetic diseases [RCV004457595] Chr20:64049166 [GRCh38]
Chr20:62680519 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_018419.3(SOX18):c.964G>T (p.Val322Leu) single nucleotide variant Inborn genetic diseases [RCV004457598] Chr20:64048357 [GRCh38]
Chr20:62679710 [GRCh37]
Chr20:20q13.33		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:326
Count of miRNA genes:281
Interacting mature miRNAs:295
Transcripts:ENST00000340356
Prediction methods:Miranda, Rnahybrid
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
RH102882  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372062,679,196 - 62,679,348UniSTSGRCh37
Build 362062,149,640 - 62,149,792RGDNCBI36
Celera2059,365,302 - 59,365,454RGD
Cytogenetic Map20q13.33UniSTS
HuRef2059,413,295 - 59,413,447UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 2005 1824 1104 206 506 80 3102 1630 1452 215 1056 1325 129 1 1200 1962 3 2
Low 339 531 603 409 481 373 1135 552 2259 173 372 184 43 4 825
Below cutoff 25 585 11 7 710 9 110 9 15 14 18 59 2 1 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000340356   ⟹   ENSP00000341815
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2064,047,582 - 64,049,639 (-)Ensembl
RefSeq Acc Id: NM_018419   ⟹   NP_060889
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382064,047,582 - 64,049,639 (-)NCBI
GRCh372062,679,079 - 62,680,979 (-)ENTREZGENE
Build 362062,149,523 - 62,151,423 (-)NCBI Archive
HuRef2059,413,178 - 59,414,764 (-)ENTREZGENE
CHM1_12062,580,086 - 62,582,001 (-)NCBI
T2T-CHM13v2.02065,867,606 - 65,869,664 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_060889   ⟸   NM_018419
- UniProtKB: Q0VGA9 (UniProtKB/Swiss-Prot),   Q9NPH8 (UniProtKB/Swiss-Prot),   P35713 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000341815   ⟸   ENST00000340356
Protein Domains
Sox C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P35713-F1-model_v2 AlphaFold P35713 1-384 view protein structure

Promoters
RGD ID:6799123
Promoter ID:HG_KWN:40236
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000080265,   OTTHUMT00000080286
Position:
Human AssemblyChrPosition (strand)Source
Build 362062,150,326 - 62,152,347 (+)MPROMDB
RGD ID:13602470
Promoter ID:EPDNEW_H27419
Type:initiation region
Name:SOX18_1
Description:SRY-box 18
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
GRCh382064,049,639 - 64,049,699EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11194 AgrOrtholog
COSMIC SOX18 COSMIC
Ensembl Genes ENSG00000203883 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000340356 ENTREZGENE
  ENST00000340356.9 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.30.10 UniProtKB/Swiss-Prot
GTEx ENSG00000203883 GTEx
HGNC ID HGNC:11194 ENTREZGENE
Human Proteome Map SOX18 Human Proteome Map
InterPro HMG_box_dom UniProtKB/Swiss-Prot
  HMG_box_dom_sf UniProtKB/Swiss-Prot
  Sox7/17/18_central UniProtKB/Swiss-Prot
  Sox_C UniProtKB/Swiss-Prot
KEGG Report hsa:54345 UniProtKB/Swiss-Prot
NCBI Gene 54345 ENTREZGENE
OMIM 601618 OMIM
PANTHER SOX TRANSCRIPTION FACTOR UniProtKB/Swiss-Prot
  TRANSCRIPTION FACTOR SOX-18 UniProtKB/Swiss-Prot
Pfam HMG_box UniProtKB/Swiss-Prot
  Sox17_18_mid UniProtKB/Swiss-Prot
PharmGKB PA36031 PharmGKB
PROSITE HMG_BOX_2 UniProtKB/Swiss-Prot
  SOX_C UniProtKB/Swiss-Prot
SMART HMG UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47095 UniProtKB/Swiss-Prot
UniProt P35713 ENTREZGENE
  Q0VGA9 ENTREZGENE
  Q9NPH8 ENTREZGENE
  SOX18_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q0VGA9 UniProtKB/Swiss-Prot
  Q9NPH8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-06-18 SOX18  SRY-box transcription factor 18  SOX18  SRY-box 18  Symbol and/or name change 5135510 APPROVED
2015-12-01 SOX18  SRY-box 18  SOX18  SRY box 18  Symbol and/or name change 5135510 APPROVED
2015-11-10 SOX18  SRY box 18  SOX18  SRY (sex determining region Y)-box 18  Symbol and/or name change 5135510 APPROVED