FOXC2 (forkhead box C2) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: FOXC2 (forkhead box C2) Homo sapiens
Analyze
Symbol: FOXC2
Name: forkhead box C2
RGD ID: 1347315
HGNC Page HGNC:3801
Description: Enables DNA binding activity; DNA-binding transcription activator activity, RNA polymerase II-specific; and identical protein binding activity. Involved in several processes, including circulatory system development; insulin receptor signaling pathway; and negative regulation of cold-induced thermogenesis. Located in nuclear body. Implicated in several diseases, including lymphedema; lymphedema-distichiasis syndrome; obesity; ptosis; and type 2 diabetes mellitus. Biomarker of congestive heart failure.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FKHL14; forkhead box C2 (MFH-1, mesenchyme forkhead 1); forkhead box protein C2; forkhead, Drosophila, homolog-like 14; forkhead-related protein FKHL14; LD; mesenchyme fork head protein 1; mesenchyme forkhead 1; MFH-1; MFH-1,mesenchyme forkhead 1; MFH1; transcription factor FKH-14
RGD Orthologs
Mouse
Rat
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
GRCh381686,566,829 - 86,569,728 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1686,566,829 - 86,569,728 (+)EnsemblGRCh38hg38GRCh38
GRCh371686,600,435 - 86,603,334 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361685,158,443 - 85,159,948 (+)NCBINCBI36Build 36hg18NCBI36
Build 341685,158,442 - 85,159,948NCBI
Celera1670,901,820 - 70,903,503 (+)NCBICelera
Cytogenetic Map16q24.1NCBI
HuRef1672,340,749 - 72,342,345 (+)NCBIHuRef
CHM1_11688,012,585 - 88,014,267 (+)NCBICHM1_1
T2T-CHM13v2.01692,635,146 - 92,638,044 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
anatomical structure morphogenesis  (IBA,IEA)
apoptotic process involved in outflow tract morphogenesis  (IEA,ISO)
artery morphogenesis  (IEA,ISO)
blood vessel development  (IEA,ISO)
blood vessel diameter maintenance  (IEA,ISO)
blood vessel remodeling  (IEA,ISO)
branching involved in blood vessel morphogenesis  (IEA,ISO)
camera-type eye development  (IEA,ISO)
cardiac muscle cell proliferation  (IEA,ISO)
cell differentiation  (IBA,IEA)
cell population proliferation  (IEA,ISO)
collagen fibril organization  (IEA,ISO)
embryonic cranial skeleton morphogenesis  (IEA,ISO)
embryonic heart tube development  (IEA,ISO)
embryonic skeletal system morphogenesis  (IEA,ISO)
embryonic viscerocranium morphogenesis  (IEA,ISO)
glomerular endothelium development  (IEA,ISO)
glomerular mesangial cell development  (IEA,ISO)
heart development  (IEA,IMP,ISO)
heart morphogenesis  (IEA,ISO)
insulin receptor signaling pathway  (IDA)
kidney development  (IEA,ISO)
lymph vessel development  (IEA,ISO)
lymphangiogenesis  (IMP)
mesoderm development  (NAS)
metanephros development  (IEA,ISO)
negative regulation of apoptotic process involved in outflow tract morphogenesis  (IEA,ISO)
negative regulation of cold-induced thermogenesis  (IMP)
negative regulation of transcription by RNA polymerase II  (IEA,ISS)
neural crest cell development  (IEA,ISO)
Notch signaling pathway  (IEA,ISO)
ossification  (IEA,ISO)
paraxial mesoderm formation  (IEA,ISO)
paraxial mesodermal cell fate commitment  (IEA,ISO)
podocyte differentiation  (IEA,ISO)
positive regulation of cell adhesion mediated by integrin  (IEA,ISS)
positive regulation of cell migration involved in sprouting angiogenesis  (IEA,ISS)
positive regulation of DNA-templated transcription  (IDA,IEA)
positive regulation of endothelial cell migration  (IEA,ISS)
positive regulation of transcription by RNA polymerase II  (IDA,IEA,ISO,ISS)
positive regulation of vascular wound healing  (IEA,ISS)
regulation of DNA-templated transcription  (IEA)
regulation of organ growth  (IEA,ISO)
regulation of transcription by RNA polymerase II  (IBA,IEA)
response to hormone  (IDA)
skeletal system development  (IEA,ISO)
somitogenesis  (IEA)
ureteric bud development  (IEA,ISO)
vascular endothelial growth factor receptor signaling pathway  (IEA,ISO)
ventricular cardiac muscle tissue morphogenesis  (IEA,ISO)

Cellular Component
chromatin  (ISA)
nuclear body  (IDA)
nucleoplasm  (IDA)
nucleus  (IC,IDA,IEA)

References

References - curated
# Reference Title Reference Citation
1. The FOXC2 C-512T polymorphism is associated with obesity and dyslipidemia. Carlsson E, etal., Obes Res. 2004 Nov;12(11):1738-43.
2. Truncating mutations in FOXC2 cause multiple lymphedema syndromes. Finegold DN, etal., Hum Mol Genet. 2001 May 15;10(11):1185-9.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Transcriptional genomics associates FOX transcription factors with human heart failure. Hannenhalli S, etal., Circulation. 2006 Sep 19;114(12):1269-76. Epub 2006 Sep 4.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. Systematic search for single nucleotide polymorphisms in the FOXC2 gene: the absence of evidence for the association of three frequent single nucleotide polymorphisms and four common haplotypes with Japanese type 2 diabetes. Osawa H, etal., Diabetes. 2003 Feb;52(2):562-7.
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. FOXC2 mRNA Expression and a 5' untranslated region polymorphism of the gene are associated with insulin resistance. Ridderstrale M, etal., Diabetes. 2002 Dec;51(12):3554-60.
11. A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus. Yildirim-Toruner C, etal., Am J Med Genet A. 2004 Dec 15;131(3):281-6.
Additional References at PubMed
PMID:8674414   PMID:9169153   PMID:10417285   PMID:10669593   PMID:11076863   PMID:11078474   PMID:11499682   PMID:11551504   PMID:11562355   PMID:11694548   PMID:12114478   PMID:12383817  
PMID:12477932   PMID:12485195   PMID:12716768   PMID:14530861   PMID:15198934   PMID:15489334   PMID:15597109   PMID:15919786   PMID:15926113   PMID:16081467   PMID:16456100   PMID:16786163  
PMID:17081983   PMID:17342473   PMID:17372167   PMID:17537911   PMID:18197197   PMID:18564920   PMID:18660489   PMID:18973153   PMID:18974842   PMID:18986489   PMID:19013876   PMID:19056482  
PMID:19185813   PMID:19274049   PMID:19336002   PMID:19339011   PMID:19394045   PMID:19453261   PMID:19548265   PMID:19760751   PMID:19876004   PMID:19935708   PMID:20060810   PMID:20201926  
PMID:20218083   PMID:20301630   PMID:20450314   PMID:20460685   PMID:20535019   PMID:20540670   PMID:20552815   PMID:20634891   PMID:20803080   PMID:20956529   PMID:21270254   PMID:21457232  
PMID:21464574   PMID:21640215   PMID:21873635   PMID:21918810   PMID:22178381   PMID:22216698   PMID:22349027   PMID:22374725   PMID:22410781   PMID:22493429   PMID:23378344   PMID:23614500  
PMID:23878394   PMID:23919841   PMID:24276887   PMID:24278289   PMID:24641373   PMID:24647631   PMID:24700112   PMID:24700685   PMID:24854274   PMID:24984567   PMID:25109336   PMID:25216525  
PMID:25381815   PMID:25416956   PMID:25480587   PMID:25486430   PMID:25556265   PMID:25573594   PMID:25605149   PMID:25609649   PMID:25677742   PMID:25896630   PMID:26091406   PMID:26125751  
PMID:26389677   PMID:26420053   PMID:26496610   PMID:26524507   PMID:26733175   PMID:26758745   PMID:26804168   PMID:26808710   PMID:26824865   PMID:27064522   PMID:27214551   PMID:27276711  
PMID:27283491   PMID:27292262   PMID:27336949   PMID:27349002   PMID:27562816   PMID:27570485   PMID:27634875   PMID:28323030   PMID:28433696   PMID:28473536   PMID:28514442   PMID:28544699  
PMID:28657660   PMID:28724617   PMID:29131008   PMID:29216867   PMID:29341903   PMID:29465790   PMID:29737063   PMID:29801468   PMID:29908552   PMID:30021884   PMID:30633332   PMID:30657791  
PMID:30722065   PMID:30994379   PMID:31464093   PMID:31531679   PMID:32222147   PMID:32249539   PMID:32271448   PMID:32296183   PMID:32393512   PMID:32513911   PMID:32698337   PMID:33107170  
PMID:33193083   PMID:33336729   PMID:33338479   PMID:33636524   PMID:33771836   PMID:33925370   PMID:34212977   PMID:34324140   PMID:34656527   PMID:35532201   PMID:35716761   PMID:36543142  
PMID:36740986   PMID:36805538   PMID:37072887   PMID:37705741   PMID:38580085   PMID:38608123  


Genomics

Comparative Map Data
FOXC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381686,566,829 - 86,569,728 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1686,566,829 - 86,569,728 (+)EnsemblGRCh38hg38GRCh38
GRCh371686,600,435 - 86,603,334 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361685,158,443 - 85,159,948 (+)NCBINCBI36Build 36hg18NCBI36
Build 341685,158,442 - 85,159,948NCBI
Celera1670,901,820 - 70,903,503 (+)NCBICelera
Cytogenetic Map16q24.1NCBI
HuRef1672,340,749 - 72,342,345 (+)NCBIHuRef
CHM1_11688,012,585 - 88,014,267 (+)NCBICHM1_1
T2T-CHM13v2.01692,635,146 - 92,638,044 (+)NCBIT2T-CHM13v2.0
Foxc2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398121,842,910 - 121,845,634 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8121,842,910 - 121,845,634 (+)EnsemblGRCm39 Ensembl
GRCm388121,116,171 - 121,118,895 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8121,116,171 - 121,118,895 (+)EnsemblGRCm38mm10GRCm38
MGSCv378123,640,071 - 123,642,795 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368124,002,560 - 124,004,872 (+)NCBIMGSCv36mm8
Celera8125,334,251 - 125,336,975 (+)NCBICelera
Cytogenetic Map8E1NCBI
cM Map870.33NCBI
Foxc2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81966,094,718 - 66,097,420 (+)NCBIGRCr8
mRatBN7.21949,186,034 - 49,188,736 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1949,185,662 - 49,188,737 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1955,977,317 - 55,980,018 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01956,661,030 - 56,663,732 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01958,875,485 - 58,878,187 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01953,044,379 - 53,047,081 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1953,044,379 - 53,047,081 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01963,788,037 - 63,790,739 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.11228,513,040 - 228,513,088 (-)NCBI
Celera1948,432,333 - 48,435,035 (+)NCBICelera
Cytogenetic Map19q12NCBI
FOXC2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21896,322,973 - 96,325,904 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan116102,240,170 - 102,243,107 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01667,237,476 - 67,239,545 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11686,569,509 - 86,571,878 (+)NCBIpanpan1.1PanPan1.1panPan2
FOXC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1566,234,336 - 66,296,007 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl566,294,176 - 66,295,693 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha566,246,461 - 66,254,587 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0566,455,805 - 66,464,138 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1566,479,102 - 66,487,010 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0566,314,300 - 66,322,205 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0566,727,335 - 66,735,464 (-)NCBIUU_Cfam_GSD_1.0
Foxc2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934926,482,456 - 26,485,324 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366412,236,873 - 2,238,375 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366412,236,224 - 2,238,501 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FOXC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl62,552,862 - 2,554,367 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.162,552,141 - 2,555,041 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.262,756,138 - 2,761,356 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FOXC2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1571,951,980 - 71,955,021 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl571,952,632 - 71,954,134 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660473,750,917 - 3,753,843 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Foxc2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247462,632,619 - 2,634,085 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247462,632,547 - 2,634,867 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FOXC2
141 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005251.3(FOXC2):c.1090_1093dup (p.Pro365fs) duplication Distichiasis-lymphedema syndrome [RCV000007672] Chr16:86568423..86568424 [GRCh38]
Chr16:86602029..86602030 [GRCh37]
Chr16:16q24.1
pathogenic
NM_005251.3(FOXC2):c.290_300del (p.Gly97fs) deletion Distichiasis-lymphedema syndrome [RCV000007673] Chr16:86567624..86567634 [GRCh38]
Chr16:86601230..86601240 [GRCh37]
Chr16:16q24.1
pathogenic
NM_005251.3(FOXC2):c.1331del (p.Gln444fs) deletion Distichiasis-lymphedema syndrome [RCV000007674] Chr16:86568666 [GRCh38]
Chr16:86602272 [GRCh37]
Chr16:16q24.1
pathogenic
NM_005251.3(FOXC2):c.209dup (p.Val71fs) duplication Distichiasis-lymphedema syndrome [RCV000007675] Chr16:86567543..86567544 [GRCh38]
Chr16:86601149..86601150 [GRCh37]
Chr16:16q24.1
pathogenic
NM_005251.3(FOXC2):c.200_201dup (p.Lys68fs) duplication Distichiasis-lymphedema syndrome [RCV000007676] Chr16:86567534..86567535 [GRCh38]
Chr16:86601140..86601141 [GRCh37]
Chr16:16q24.1
pathogenic
NM_005251.3(FOXC2):c.588dup (p.Thr197fs) duplication Distichiasis-lymphedema syndrome [RCV000007677] Chr16:86567921..86567922 [GRCh38]
Chr16:86601527..86601528 [GRCh37]
Chr16:16q24.1
pathogenic
NM_005251.3(FOXC2):c.509del (p.Lys170fs) deletion Distichiasis-lymphedema syndrome [RCV000007678] Chr16:86567840 [GRCh38]
Chr16:86601446 [GRCh37]
Chr16:16q24.1
pathogenic
NM_005251.3(FOXC2):c.914_921del (p.Tyr305fs) deletion Distichiasis-lymphedema syndrome [RCV000007679] Chr16:86568249..86568256 [GRCh38]
Chr16:86601855..86601862 [GRCh37]
Chr16:16q24.1
pathogenic
NM_005251.3(FOXC2):c.1006dup (p.Met336fs) duplication Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus [RCV000007680] Chr16:86568340..86568341 [GRCh38]
Chr16:86601946..86601947 [GRCh37]
Chr16:16q24.1
pathogenic
NM_005251.3(FOXC2):c.602_681delinsACAAA (p.Ala201_Thr226delinsAsp) indel Distichiasis-lymphedema syndrome [RCV000007681] Chr16:86567937..86568016 [GRCh38]
Chr16:86601543..86601622 [GRCh37]
Chr16:16q24.1
pathogenic
NM_005251.3(FOXC2):c.130del (p.His44fs) deletion not provided [RCV000519605] Chr16:86567464 [GRCh38]
Chr16:86601070 [GRCh37]
Chr16:16q24.1
pathogenic
NM_005251.3(FOXC2):c.297C>G (p.Tyr99Ter) single nucleotide variant Distichiasis-lymphedema syndrome [RCV000007671] Chr16:86567632 [GRCh38]
Chr16:86601238 [GRCh37]
Chr16:16q24.1
pathogenic|likely pathogenic
NM_005251.3(FOXC2):c.374C>T (p.Ser125Leu) single nucleotide variant Distichiasis-lymphedema syndrome [RCV000007682] Chr16:86567709 [GRCh38]
Chr16:86601315 [GRCh37]
Chr16:16q24.1
pathogenic
NM_005251.3(FOXC2):c.362G>A (p.Arg121His) single nucleotide variant Distichiasis-lymphedema syndrome [RCV000007683] Chr16:86567697 [GRCh38]
Chr16:86601303 [GRCh37]
Chr16:16q24.1
pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3 copy number gain See cases [RCV000050840] Chr16:78816291..90081985 [GRCh38]
Chr16:78850188..90148393 [GRCh37]
Chr16:77407689..88675894 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1 copy number loss See cases [RCV000051122] Chr16:83878992..87223838 [GRCh38]
Chr16:83912597..87257444 [GRCh37]
Chr16:82470098..85814945 [NCBI36]
Chr16:16q23.3-24.2
pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 copy number gain See cases [RCV000052422] Chr16:70514631..90081985 [GRCh38]
Chr16:70548534..90148393 [GRCh37]
Chr16:69106035..88675894 [NCBI36]
Chr16:16q22.1-24.3
pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3 copy number gain See cases [RCV000052423] Chr16:76873569..90081985 [GRCh38]
Chr16:76907466..90148393 [GRCh37]
Chr16:75464967..88675894 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3 copy number gain See cases [RCV000052424] Chr16:82173150..90081985 [GRCh38]
Chr16:82206755..90148393 [GRCh37]
Chr16:80764256..88675894 [NCBI36]
Chr16:16q23.3-24.3
pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:84707538-90081985)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|See cases [RCV000052425] Chr16:84707538..90081985 [GRCh38]
Chr16:84741144..90148393 [GRCh37]
Chr16:83298645..88675894 [NCBI36]
Chr16:16q24.1-24.3
pathogenic
GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1 copy number loss See cases [RCV000053359] Chr16:78704275..87819342 [GRCh38]
Chr16:78738172..87852948 [GRCh37]
Chr16:77295673..86410449 [NCBI36]
Chr16:16q23.1-24.2
pathogenic
NM_005251.3(FOXC2):c.624G>A (p.Glu208=) single nucleotide variant not provided [RCV001812943] Chr16:86567959 [GRCh38]
Chr16:86601565 [GRCh37]
Chr16:16q24.1
benign
NM_005251.3(FOXC2):c.782C>A (p.Ala261Asp) single nucleotide variant Distichiasis-lymphedema syndrome [RCV001332586] Chr16:86568117 [GRCh38]
Chr16:86601723 [GRCh37]
Chr16:16q24.1
uncertain significance
GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3 copy number gain See cases [RCV000135659] Chr16:83988570..90081985 [GRCh38]
Chr16:84022175..90148393 [GRCh37]
Chr16:82579676..88675894 [NCBI36]
Chr16:16q23.3-24.3
likely pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3 copy number gain See cases [RCV000136898] Chr16:80946659..90081985 [GRCh38]
Chr16:80980556..90148393 [GRCh37]
Chr16:79538057..88675894 [NCBI36]
Chr16:16q23.2-24.3
pathogenic|likely pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 copy number gain See cases [RCV000137495] Chr16:70749398..90096995 [GRCh38]
Chr16:70783301..90163403 [GRCh37]
Chr16:69340802..88690904 [NCBI36]
Chr16:16q22.1-24.3
pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3 copy number gain See cases [RCV000137980] Chr16:83478453..89932910 [GRCh38]
Chr16:83512058..89999318 [GRCh37]
Chr16:82069559..88526819 [NCBI36]
Chr16:16q23.3-24.3
likely pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3 copy number gain See cases [RCV000139302] Chr16:75377981..90081992 [GRCh38]
Chr16:75411879..90148400 [GRCh37]
Chr16:73969380..88675901 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3 copy number gain See cases [RCV000139658] Chr16:85552976..90096995 [GRCh38]
Chr16:85586582..90163403 [GRCh37]
Chr16:84144083..88690904 [NCBI36]
Chr16:16q24.1-24.3
pathogenic
GRCh38/hg38 16q24.1(chr16:86271377-86672163)x3 copy number gain See cases [RCV000141386] Chr16:86271377..86672163 [GRCh38]
Chr16:86304983..86705769 [GRCh37]
Chr16:84862484..85263270 [NCBI36]
Chr16:16q24.1
uncertain significance
GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3 copy number gain See cases [RCV000141128] Chr16:80717291..90096662 [GRCh38]
Chr16:80751188..90163070 [GRCh37]
Chr16:79308689..88690571 [NCBI36]
Chr16:16q23.2-24.3
pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3 copy number gain See cases [RCV000141700] Chr16:76336203..90088654 [GRCh38]
Chr16:76370100..90155062 [GRCh37]
Chr16:74927601..88682563 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3 copy number gain See cases [RCV000142698] Chr16:80067315..90057871 [GRCh38]
Chr16:80101212..90124279 [GRCh37]
Chr16:78658713..88651780 [NCBI36]
Chr16:16q23.2-24.3
pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3
pathogenic
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3 copy number gain See cases [RCV000240108] Chr16:74872514..90274440 [GRCh37]
Chr16:16q23.1-24.3
pathogenic
t(5;16)(p15.31;q23.1) translocation not provided [RCV000203391] Chr5:1..8180513 [GRCh37]
Chr16:76935310..90354753 [GRCh37]
Chr5:5p15.33-15.31
Chr16:16q23.1-24.3
likely pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3
uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207182] Chr16:72107834..90142285 [GRCh37]
Chr16:16q22.2-24.3
uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3
uncertain significance
NM_005251.3(FOXC2):c.435C>T (p.Tyr145=) single nucleotide variant not provided [RCV000878694]|not specified [RCV000246078] Chr16:86567770 [GRCh38]
Chr16:86601376 [GRCh37]
Chr16:16q24.1
benign
NM_005251.3(FOXC2):c.1308C>T (p.Pro436=) single nucleotide variant not provided [RCV000878624]|not specified [RCV000253726] Chr16:86568643 [GRCh38]
Chr16:86602249 [GRCh37]
Chr16:16q24.1
benign|likely benign
NM_005251.3(FOXC2):c.108C>T (p.Ser36=) single nucleotide variant not provided [RCV000877831]|not specified [RCV000249159] Chr16:86567443 [GRCh38]
Chr16:86601049 [GRCh37]
Chr16:16q24.1
benign
NM_005251.3(FOXC2):c.351G>A (p.Gln117=) single nucleotide variant not specified [RCV000249487] Chr16:86567686 [GRCh38]
Chr16:86601292 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.411C>T (p.Asp137=) single nucleotide variant not specified [RCV000254487] Chr16:86567746 [GRCh38]
Chr16:86601352 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.1482C>T (p.Tyr494=) single nucleotide variant not specified [RCV000245784] Chr16:86568817 [GRCh38]
Chr16:86602423 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.988dup (p.Gln330fs) duplication not provided [RCV000309850] Chr16:86568321..86568322 [GRCh38]
Chr16:86601927..86601928 [GRCh37]
Chr16:16q24.1
pathogenic
NM_005251.3(FOXC2):c.563_573del (p.Pro188fs) deletion Distichiasis-lymphedema syndrome [RCV001269288] Chr16:86567896..86567906 [GRCh38]
Chr16:86601502..86601512 [GRCh37]
Chr16:16q24.1
pathogenic
NM_005251.3(FOXC2):c.1218CCAGCC[3] (p.407QP[3]) microsatellite not provided [RCV000722202] Chr16:86568550..86568551 [GRCh38]
Chr16:86602156..86602157 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.978_996dup (p.Met333fs) duplication not provided [RCV000627503] Chr16:86568310..86568311 [GRCh38]
Chr16:86601916..86601917 [GRCh37]
Chr16:16q24.1
likely pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q24.1-24.2(chr16:85491404-87883528)x1 copy number loss See cases [RCV000510624] Chr16:85491404..87883528 [GRCh37]
Chr16:16q24.1-24.2
pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
GRCh37/hg19 16q24.1-24.3(chr16:84937273-89836905)x4 copy number gain See cases [RCV000511606] Chr16:84937273..89836905 [GRCh37]
Chr16:16q24.1-24.3
likely pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_005251.3(FOXC2):c.967G>T (p.Ala323Ser) single nucleotide variant Inborn genetic diseases [RCV003258563] Chr16:86568302 [GRCh38]
Chr16:86601908 [GRCh37]
Chr16:16q24.1
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_005251.3(FOXC2):c.856G>C (p.Glu286Gln) single nucleotide variant Inborn genetic diseases [RCV003253298] Chr16:86568191 [GRCh38]
Chr16:86601797 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.902_923del (p.Leu301fs) deletion not provided [RCV000627628] Chr16:86568229..86568250 [GRCh38]
Chr16:86601835..86601856 [GRCh37]
Chr16:16q24.1
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3
pathogenic
GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3 copy number gain See cases [RCV000512440] Chr16:85838574..90155062 [GRCh37]
Chr16:16q24.1-24.3
pathogenic
GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3 copy number gain See cases [RCV000512468] Chr16:83001540..90155062 [GRCh37]
Chr16:16q23.3-24.3
likely pathogenic
NM_005251.3(FOXC2):c.712C>T (p.Gln238Ter) single nucleotide variant not provided [RCV000627280] Chr16:86568047 [GRCh38]
Chr16:86601653 [GRCh37]
Chr16:16q24.1
pathogenic
NM_005251.3(FOXC2):c.1331A>G (p.Gln444Arg) single nucleotide variant Distichiasis-lymphedema syndrome [RCV000660533]|not provided [RCV000878757] Chr16:86568666 [GRCh38]
Chr16:86602272 [GRCh37]
Chr16:16q24.1
benign|likely benign|uncertain significance
GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3 copy number gain not provided [RCV000683845] Chr16:79400436..90155062 [GRCh37]
Chr16:16q23.2-24.3
pathogenic
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 copy number gain not provided [RCV000683831] Chr16:72515938..90155062 [GRCh37]
Chr16:16q22.2-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_005251.3(FOXC2):c.361C>T (p.Arg121Cys) single nucleotide variant Distichiasis-lymphedema syndrome [RCV000735835]|Inborn genetic diseases [RCV003258957]|not provided [RCV001811460] Chr16:86567696 [GRCh38]
Chr16:86601302 [GRCh37]
Chr16:16q24.1
pathogenic|likely pathogenic
NM_005251.3(FOXC2):c.122A>T (p.Tyr41Phe) single nucleotide variant Distichiasis-lymphedema syndrome [RCV000735836] Chr16:86567457 [GRCh38]
Chr16:86601063 [GRCh37]
Chr16:16q24.1
pathogenic
NM_005251.3(FOXC2):c.1258C>T (p.Gln420Ter) single nucleotide variant Distichiasis-lymphedema syndrome [RCV000735838] Chr16:86568593 [GRCh38]
Chr16:86602199 [GRCh37]
Chr16:16q24.1
pathogenic
NM_005251.3(FOXC2):c.1205C>T (p.Pro402Leu) single nucleotide variant Distichiasis-lymphedema syndrome [RCV000735837] Chr16:86568540 [GRCh38]
Chr16:86602146 [GRCh37]
Chr16:16q24.1
pathogenic
NM_005251.2(FOXC2):c.(?_1)_(1506_?)del deletion Distichiasis-lymphedema syndrome [RCV000761279] Chr16:86567336..86568841 [GRCh38]
Chr16:86600942..86602447 [GRCh37]
Chr16:16q24.1
likely pathogenic
NM_005251.3(FOXC2):c.1335A>G (p.Gln445=) single nucleotide variant not provided [RCV000950544] Chr16:86568670 [GRCh38]
Chr16:86602276 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.417G>A (p.Lys139=) single nucleotide variant not provided [RCV000902930] Chr16:86567752 [GRCh38]
Chr16:86601358 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.267C>G (p.Pro89=) single nucleotide variant not provided [RCV000927205] Chr16:86567602 [GRCh38]
Chr16:86601208 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.648G>A (p.Glu216=) single nucleotide variant not provided [RCV000878153] Chr16:86567983 [GRCh38]
Chr16:86601589 [GRCh37]
Chr16:16q24.1
benign|likely benign
GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381) copy number gain not provided [RCV000767619] Chr16:82761333..90055381 [GRCh37]
Chr16:16q23.3-24.3
pathogenic
NM_005251.3(FOXC2):c.69T>C (p.Asn23=) single nucleotide variant not provided [RCV000942504] Chr16:86567404 [GRCh38]
Chr16:86601010 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.270G>A (p.Glu90=) single nucleotide variant not provided [RCV000878325] Chr16:86567605 [GRCh38]
Chr16:86601211 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.849G>A (p.Pro283=) single nucleotide variant not provided [RCV000969822] Chr16:86568184 [GRCh38]
Chr16:86601790 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.1364A>G (p.Asn455Ser) single nucleotide variant Distichiasis-lymphedema syndrome [RCV002489282]|not provided [RCV000945604] Chr16:86568699 [GRCh38]
Chr16:86602305 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.605A>C (p.Asp202Ala) single nucleotide variant Distichiasis-lymphedema syndrome [RCV002505396]|Inborn genetic diseases [RCV003338875]|not provided [RCV000940881] Chr16:86567940 [GRCh38]
Chr16:86601546 [GRCh37]
Chr16:16q24.1
likely benign|uncertain significance
NM_005251.3(FOXC2):c.426G>A (p.Lys142=) single nucleotide variant not provided [RCV000878194] Chr16:86567761 [GRCh38]
Chr16:86601367 [GRCh37]
Chr16:16q24.1
benign
NM_005251.3(FOXC2):c.566C>A (p.Ala189Glu) single nucleotide variant FOXC2-related disorder [RCV003928525]|not provided [RCV000972012] Chr16:86567901 [GRCh38]
Chr16:86601507 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.1460T>C (p.Leu487Pro) single nucleotide variant not provided [RCV000782238] Chr16:86568795 [GRCh38]
Chr16:86602401 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.725_746del (p.Arg242fs) deletion not provided [RCV001008211] Chr16:86568054..86568075 [GRCh38]
Chr16:86601660..86601681 [GRCh37]
Chr16:16q24.1
likely pathogenic
NM_005251.3(FOXC2):c.930_936dup (p.Tyr313fs) microsatellite not provided [RCV001008822] Chr16:86568257..86568258 [GRCh38]
Chr16:86601863..86601864 [GRCh37]
Chr16:16q24.1
pathogenic|likely pathogenic
NM_005251.3(FOXC2):c.1346A>G (p.Asn449Ser) single nucleotide variant Inborn genetic diseases [RCV003291067] Chr16:86568681 [GRCh38]
Chr16:86602287 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.880G>A (p.Ala294Thr) single nucleotide variant not provided [RCV003105147] Chr16:86568215 [GRCh38]
Chr16:86601821 [GRCh37]
Chr16:16q24.1
uncertain significance
NC_000016.9:g.(?_85936622)_(86602447_?)dup duplication Immunodeficiency 32B [RCV003107594] Chr16:85936622..86602447 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.1463A>G (p.Tyr488Cys) single nucleotide variant not provided [RCV000951612] Chr16:86568798 [GRCh38]
Chr16:86602404 [GRCh37]
Chr16:16q24.1
benign
NM_005251.3(FOXC2):c.939C>G (p.Tyr313Ter) single nucleotide variant Distichiasis-lymphedema syndrome [RCV000853361] Chr16:86568274 [GRCh38]
Chr16:86601880 [GRCh37]
Chr16:16q24.1
likely pathogenic
NM_005251.3(FOXC2):c.795C>T (p.Asn265=) single nucleotide variant not provided [RCV000909294] Chr16:86568130 [GRCh38]
Chr16:86601736 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.375G>C (p.Ser125=) single nucleotide variant not provided [RCV000901669] Chr16:86567710 [GRCh38]
Chr16:86601316 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.912dup (p.Tyr305fs) duplication not provided [RCV001092203] Chr16:86568244..86568245 [GRCh38]
Chr16:86601850..86601851 [GRCh37]
Chr16:16q24.1
pathogenic
GRCh37/hg19 16q24.1-24.2(chr16:84872102-87678641) copy number loss Alveolar capillary dysplasia with pulmonary venous misalignment [RCV001004081] Chr16:84872102..87678641 [GRCh37]
Chr16:16q24.1-24.2
pathogenic
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3
not provided
NM_005251.3(FOXC2):c.311_315del (p.Asp104fs) deletion not provided [RCV001008216] Chr16:86567646..86567650 [GRCh38]
Chr16:86601252..86601256 [GRCh37]
Chr16:16q24.1
pathogenic
NM_005251.3(FOXC2):c.347G>A (p.Trp116Ter) single nucleotide variant Distichiasis-lymphedema syndrome [RCV001172315] Chr16:86567682 [GRCh38]
Chr16:86601288 [GRCh37]
Chr16:16q24.1
likely pathogenic
GRCh37/hg19 16q24.1(chr16:86287540-86718579)x3 copy number gain not provided [RCV001258658] Chr16:86287540..86718579 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.710dup (p.Gln238fs) duplication Distichiasis-lymphedema syndrome [RCV001289547] Chr16:86568044..86568045 [GRCh38]
Chr16:86601650..86601651 [GRCh37]
Chr16:16q24.1
pathogenic
NM_005251.3(FOXC2):c.1169_1189del (p.Gln390_His396del) deletion Distichiasis-lymphedema syndrome [RCV002499745]|not provided [RCV001366346] Chr16:86568491..86568511 [GRCh38]
Chr16:86602097..86602117 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.760G>C (p.Gly254Arg) single nucleotide variant Distichiasis-lymphedema syndrome [RCV001332585] Chr16:86568095 [GRCh38]
Chr16:86601701 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.1469A>T (p.His490Leu) single nucleotide variant not provided [RCV001358170] Chr16:86568804 [GRCh38]
Chr16:86602410 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.973del (p.Ala325fs) deletion Distichiasis-lymphedema syndrome [RCV001334377] Chr16:86568305 [GRCh38]
Chr16:86601911 [GRCh37]
Chr16:16q24.1
pathogenic
NM_005251.3(FOXC2):c.1221del (p.Gln407fs) deletion Distichiasis-lymphedema syndrome [RCV002250893] Chr16:86568556 [GRCh38]
Chr16:86602162 [GRCh37]
Chr16:16q24.1
likely pathogenic
NM_005251.3(FOXC2):c.1027G>T (p.Glu343Ter) single nucleotide variant Non-immune hydrops fetalis [RCV001376048] Chr16:86568362 [GRCh38]
Chr16:86601968 [GRCh37]
Chr16:16q24.1
likely pathogenic
NM_005251.3(FOXC2):c.-350G>T single nucleotide variant not provided [RCV001651513] Chr16:86566986 [GRCh38]
Chr16:86600592 [GRCh37]
Chr16:16q24.1
benign
NM_005251.3(FOXC2):c.*260A>G single nucleotide variant not provided [RCV001715992] Chr16:86569101 [GRCh38]
Chr16:86602707 [GRCh37]
Chr16:16q24.1
benign
NM_005251.3(FOXC2):c.1055C>T (p.Pro352Leu) single nucleotide variant not provided [RCV001754511] Chr16:86568390 [GRCh38]
Chr16:86601996 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.298C>T (p.Gln100Ter) single nucleotide variant Distichiasis-lymphedema syndrome [RCV001783306] Chr16:86567633 [GRCh38]
Chr16:86601239 [GRCh37]
Chr16:16q24.1
pathogenic
GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3 copy number gain not provided [RCV001795551] Chr16:80386595..90163348 [GRCh37]
Chr16:16q23.2-24.3
pathogenic
NM_005251.3(FOXC2):c.970G>T (p.Gly324Trp) single nucleotide variant not provided [RCV001779829] Chr16:86568305 [GRCh38]
Chr16:86601911 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.80C>T (p.Ala27Val) single nucleotide variant not provided [RCV001752701] Chr16:86567415 [GRCh38]
Chr16:86601021 [GRCh37]
Chr16:16q24.1
uncertain significance
NC_000016.9:g.86243180_87703229del deletion Alveolar capillary dysplasia with pulmonary venous misalignment [RCV001199829] Chr16:86243180..87703229 [GRCh37]
Chr16:16q24.1-24.2
pathogenic
NM_005251.3(FOXC2):c.889GTG[3] (p.Val298dup) microsatellite Distichiasis-lymphedema syndrome [RCV002489851]|not provided [RCV001811894] Chr16:86568221..86568222 [GRCh38]
Chr16:86601827..86601828 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.595dup (p.His199fs) duplication not provided [RCV002007288] Chr16:86567924..86567925 [GRCh38]
Chr16:86601530..86601531 [GRCh37]
Chr16:16q24.1
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
NM_005251.3(FOXC2):c.558del (p.Pro188fs) deletion not provided [RCV002292932] Chr16:86567893 [GRCh38]
Chr16:86601499 [GRCh37]
Chr16:16q24.1
pathogenic
NM_005251.3(FOXC2):c.902_920del (p.Leu301fs) deletion not provided [RCV002262523] Chr16:86568231..86568249 [GRCh38]
Chr16:86601837..86601855 [GRCh37]
Chr16:16q24.1
pathogenic
NM_005251.3(FOXC2):c.*196C>T single nucleotide variant not provided [RCV002286228] Chr16:86569037 [GRCh38]
Chr16:86602643 [GRCh37]
Chr16:16q24.1
likely benign
GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3 copy number gain Syndromic anorectal malformation [RCV002286607] Chr16:71641395..90161959 [GRCh37]
Chr16:16q22.2-24.3
likely pathogenic
NM_005251.3(FOXC2):c.1265C>T (p.Ala422Val) single nucleotide variant Distichiasis-lymphedema syndrome [RCV003144080] Chr16:86568600 [GRCh38]
Chr16:86602206 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.443_449dup (p.Asp151fs) microsatellite not provided [RCV002505968] Chr16:86567769..86567770 [GRCh38]
Chr16:86601375..86601376 [GRCh37]
Chr16:16q24.1
likely pathogenic
NM_005251.3(FOXC2):c.1360T>A (p.Phe454Ile) single nucleotide variant not provided [RCV002303837] Chr16:86568695 [GRCh38]
Chr16:86602301 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.124T>G (p.Ser42Ala) single nucleotide variant Inborn genetic diseases [RCV003097917]|not provided [RCV002296100] Chr16:86567459 [GRCh38]
Chr16:86601065 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.319C>G (p.Pro107Ala) single nucleotide variant Inborn genetic diseases [RCV002860161]|not provided [RCV003322935] Chr16:86567654 [GRCh38]
Chr16:86601260 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.580G>T (p.Ala194Ser) single nucleotide variant not provided [RCV002995551] Chr16:86567915 [GRCh38]
Chr16:86601521 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.805G>A (p.Gly269Ser) single nucleotide variant Inborn genetic diseases [RCV002777447] Chr16:86568140 [GRCh38]
Chr16:86601746 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.321C>G (p.Pro107=) single nucleotide variant not provided [RCV003074231] Chr16:86567656 [GRCh38]
Chr16:86601262 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.1114C>T (p.Leu372Phe) single nucleotide variant not provided [RCV002903050] Chr16:86568449 [GRCh38]
Chr16:86602055 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.183C>T (p.His61=) single nucleotide variant not provided [RCV002755297] Chr16:86567518 [GRCh38]
Chr16:86601124 [GRCh37]
Chr16:16q24.1
benign
NM_005251.3(FOXC2):c.814G>A (p.Val272Met) single nucleotide variant Inborn genetic diseases [RCV002688706] Chr16:86568149 [GRCh38]
Chr16:86601755 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.1492T>C (p.Cys498Arg) single nucleotide variant FOXC2-related disorder [RCV003903787]|not provided [RCV002863241] Chr16:86568827 [GRCh38]
Chr16:86602433 [GRCh37]
Chr16:16q24.1
benign|likely benign
NM_005251.3(FOXC2):c.1093C>T (p.Pro365Ser) single nucleotide variant Inborn genetic diseases [RCV003051110]|not provided [RCV003076367] Chr16:86568428 [GRCh38]
Chr16:86602034 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.1017C>T (p.Tyr339=) single nucleotide variant not provided [RCV002842981] Chr16:86568352 [GRCh38]
Chr16:86601958 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.1086G>C (p.Pro362=) single nucleotide variant not provided [RCV003076507] Chr16:86568421 [GRCh38]
Chr16:86602027 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.1359G>A (p.Met453Ile) single nucleotide variant not provided [RCV002952579] Chr16:86568694 [GRCh38]
Chr16:86602300 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.535G>A (p.Glu179Lys) single nucleotide variant Inborn genetic diseases [RCV002799345] Chr16:86567870 [GRCh38]
Chr16:86601476 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.859C>G (p.Leu287Val) single nucleotide variant not provided [RCV002797345] Chr16:86568194 [GRCh38]
Chr16:86601800 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.744C>T (p.Pro248=) single nucleotide variant FOXC2-related disorder [RCV003963530]|not provided [RCV002979360] Chr16:86568079 [GRCh38]
Chr16:86601685 [GRCh37]
Chr16:16q24.1
benign|likely benign
NM_005251.3(FOXC2):c.1095C>G (p.Pro365=) single nucleotide variant not provided [RCV002695403] Chr16:86568430 [GRCh38]
Chr16:86602036 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.941G>A (p.Gly314Asp) single nucleotide variant Inborn genetic diseases [RCV002691582]|not provided [RCV003669326] Chr16:86568276 [GRCh38]
Chr16:86601882 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.688A>G (p.Thr230Ala) single nucleotide variant Inborn genetic diseases [RCV003274062]|not provided [RCV002867982] Chr16:86568023 [GRCh38]
Chr16:86601629 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.227_230dup (p.Tyr77Ter) duplication not provided [RCV002867096] Chr16:86567560..86567561 [GRCh38]
Chr16:86601166..86601167 [GRCh37]
Chr16:16q24.1
pathogenic
NM_005251.3(FOXC2):c.1467C>G (p.Arg489=) single nucleotide variant not provided [RCV002592913] Chr16:86568802 [GRCh38]
Chr16:86602408 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.883G>A (p.Gly295Ser) single nucleotide variant Inborn genetic diseases [RCV002913118]|not provided [RCV002913117] Chr16:86568218 [GRCh38]
Chr16:86601824 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.961C>T (p.Leu321=) single nucleotide variant not provided [RCV002695564] Chr16:86568296 [GRCh38]
Chr16:86601902 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.610C>T (p.Pro204Ser) single nucleotide variant not provided [RCV003042995] Chr16:86567945 [GRCh38]
Chr16:86601551 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.871G>T (p.Ala291Ser) single nucleotide variant not provided [RCV002701386] Chr16:86568206 [GRCh38]
Chr16:86601812 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.981G>A (p.Gly327=) single nucleotide variant not provided [RCV002918022] Chr16:86568316 [GRCh38]
Chr16:86601922 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.1172A>C (p.His391Pro) single nucleotide variant Inborn genetic diseases [RCV002826195] Chr16:86568507 [GRCh38]
Chr16:86602113 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.977C>G (p.Ala326Gly) single nucleotide variant Inborn genetic diseases [RCV002647281]|not provided [RCV002624148] Chr16:86568312 [GRCh38]
Chr16:86601918 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.1425C>T (p.Ala475=) single nucleotide variant not provided [RCV003059044] Chr16:86568760 [GRCh38]
Chr16:86602366 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.695G>A (p.Ser232Asn) single nucleotide variant not provided [RCV003023150] Chr16:86568030 [GRCh38]
Chr16:86601636 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.724C>A (p.Arg242Ser) single nucleotide variant Inborn genetic diseases [RCV002920086] Chr16:86568059 [GRCh38]
Chr16:86601665 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.517G>T (p.Val173Leu) single nucleotide variant Inborn genetic diseases [RCV002812673] Chr16:86567852 [GRCh38]
Chr16:86601458 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.604G>A (p.Asp202Asn) single nucleotide variant not provided [RCV002922266] Chr16:86567939 [GRCh38]
Chr16:86601545 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.161G>T (p.Arg54Leu) single nucleotide variant not provided [RCV002647921] Chr16:86567496 [GRCh38]
Chr16:86601102 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.7G>A (p.Ala3Thr) single nucleotide variant Inborn genetic diseases [RCV002648789] Chr16:86567342 [GRCh38]
Chr16:86600948 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.1103C>T (p.Pro368Leu) single nucleotide variant Inborn genetic diseases [RCV002768899] Chr16:86568438 [GRCh38]
Chr16:86602044 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.419C>T (p.Pro140Leu) single nucleotide variant Inborn genetic diseases [RCV002674543]|not provided [RCV003565609] Chr16:86567754 [GRCh38]
Chr16:86601360 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.440C>T (p.Thr147Ile) single nucleotide variant Inborn genetic diseases [RCV002674544]|not provided [RCV003565610] Chr16:86567775 [GRCh38]
Chr16:86601381 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.1056dup (p.Ala353fs) duplication not provided [RCV002811665] Chr16:86568388..86568389 [GRCh38]
Chr16:86601994..86601995 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.354C>T (p.Asn118=) single nucleotide variant not provided [RCV002720133] Chr16:86567689 [GRCh38]
Chr16:86601295 [GRCh37]
Chr16:16q24.1
benign
NM_005251.3(FOXC2):c.802C>T (p.Pro268Ser) single nucleotide variant not provided [RCV002967160] Chr16:86568137 [GRCh38]
Chr16:86601743 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.1400G>A (p.Gly467Glu) single nucleotide variant Inborn genetic diseases [RCV002670070] Chr16:86568735 [GRCh38]
Chr16:86602341 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.358A>G (p.Ile120Val) single nucleotide variant not provided [RCV003093036] Chr16:86567693 [GRCh38]
Chr16:86601299 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.1248C>T (p.Ala416=) single nucleotide variant not provided [RCV003071864] Chr16:86568583 [GRCh38]
Chr16:86602189 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.747C>G (p.Ala249=) single nucleotide variant not provided [RCV003072137] Chr16:86568082 [GRCh38]
Chr16:86601688 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.154A>G (p.Met52Val) single nucleotide variant Inborn genetic diseases [RCV002679673] Chr16:86567489 [GRCh38]
Chr16:86601095 [GRCh37]
Chr16:16q24.1
uncertain significance
GRCh37/hg19 16q24.1-24.2(chr16:86544176-88110267)x1 copy number loss not provided [RCV003222894] Chr16:86544176..88110267 [GRCh37]
Chr16:16q24.1-24.2
pathogenic
NM_005251.3(FOXC2):c.1352G>A (p.Arg451Gln) single nucleotide variant Inborn genetic diseases [RCV003200316] Chr16:86568687 [GRCh38]
Chr16:86602293 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.535G>C (p.Glu179Gln) single nucleotide variant Inborn genetic diseases [RCV003175231] Chr16:86567870 [GRCh38]
Chr16:86601476 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.1204C>A (p.Pro402Thr) single nucleotide variant Inborn genetic diseases [RCV003212330] Chr16:86568539 [GRCh38]
Chr16:86602145 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.422G>T (p.Gly141Val) single nucleotide variant not provided [RCV003227314] Chr16:86567757 [GRCh38]
Chr16:86601363 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.46G>C (p.Val16Leu) single nucleotide variant Inborn genetic diseases [RCV003210287] Chr16:86567381 [GRCh38]
Chr16:86600987 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.863G>T (p.Ser288Ile) single nucleotide variant Inborn genetic diseases [RCV003308899] Chr16:86568198 [GRCh38]
Chr16:86601804 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.421G>A (p.Gly141Ser) single nucleotide variant Inborn genetic diseases [RCV003260473] Chr16:86567756 [GRCh38]
Chr16:86601362 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.1488C>G (p.Tyr496Ter) single nucleotide variant not provided [RCV003328928] Chr16:86568823 [GRCh38]
Chr16:86602429 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.529_531del (p.Lys177del) deletion Distichiasis-lymphedema syndrome [RCV003329201] Chr16:86567862..86567864 [GRCh38]
Chr16:86601468..86601470 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.1426A>C (p.Ser476Arg) single nucleotide variant Inborn genetic diseases [RCV003357283] Chr16:86568761 [GRCh38]
Chr16:86602367 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.1495A>G (p.Thr499Ala) single nucleotide variant Inborn genetic diseases [RCV003359820] Chr16:86568830 [GRCh38]
Chr16:86602436 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.1052C>T (p.Pro351Leu) single nucleotide variant not provided [RCV003332560] Chr16:86568387 [GRCh38]
Chr16:86601993 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.832C>T (p.Leu278=) single nucleotide variant not provided [RCV003419476] Chr16:86568167 [GRCh38]
Chr16:86601773 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.20T>C (p.Val7Ala) single nucleotide variant Inborn genetic diseases [RCV003376379] Chr16:86567355 [GRCh38]
Chr16:86600961 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.908_923dup (p.Pro309fs) duplication Distichiasis-lymphedema syndrome [RCV003335925] Chr16:86568239..86568240 [GRCh38]
Chr16:86601845..86601846 [GRCh37]
Chr16:16q24.1
pathogenic
NM_005251.3(FOXC2):c.578G>A (p.Gly193Asp) single nucleotide variant Inborn genetic diseases [RCV003369939] Chr16:86567913 [GRCh38]
Chr16:86601519 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.447C>A (p.Asp149Glu) single nucleotide variant Inborn genetic diseases [RCV003385370] Chr16:86567782 [GRCh38]
Chr16:86601388 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.1067A>G (p.Glu356Gly) single nucleotide variant Inborn genetic diseases [RCV003383371] Chr16:86568402 [GRCh38]
Chr16:86602008 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.1280A>G (p.Asn427Ser) single nucleotide variant Inborn genetic diseases [RCV003349382] Chr16:86568615 [GRCh38]
Chr16:86602221 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.583C>G (p.Pro195Ala) single nucleotide variant not provided [RCV003569895] Chr16:86567918 [GRCh38]
Chr16:86601524 [GRCh37]
Chr16:16q24.1
uncertain significance
GRCh37/hg19 16q24.1-24.2(chr16:84555718-87910245)x1 copy number loss not provided [RCV003483302] Chr16:84555718..87910245 [GRCh37]
Chr16:16q24.1-24.2
pathogenic
NM_005251.3(FOXC2):c.770C>A (p.Pro257Gln) single nucleotide variant FOXC2-related disorder [RCV003418945] Chr16:86568105 [GRCh38]
Chr16:86601711 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.1048G>C (p.Val350Leu) single nucleotide variant not provided [RCV003419477] Chr16:86568383 [GRCh38]
Chr16:86601989 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.251C>A (p.Ala84Asp) single nucleotide variant FOXC2-related disorder [RCV003397488] Chr16:86567586 [GRCh38]
Chr16:86601192 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.943C>T (p.Gln315Ter) single nucleotide variant FOXC2-related disorder [RCV003416962] Chr16:86568278 [GRCh38]
Chr16:86601884 [GRCh37]
Chr16:16q24.1
pathogenic
NM_005251.3(FOXC2):c.987C>G (p.Tyr329Ter) single nucleotide variant FOXC2-related disorder [RCV003406070] Chr16:86568322 [GRCh38]
Chr16:86601928 [GRCh37]
Chr16:16q24.1
likely pathogenic
NM_005251.3(FOXC2):c.563C>T (p.Pro188Leu) single nucleotide variant FOXC2-related disorder [RCV003410849] Chr16:86567898 [GRCh38]
Chr16:86601504 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.98G>T (p.Gly33Val) single nucleotide variant not provided [RCV003413019] Chr16:86567433 [GRCh38]
Chr16:86601039 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.1470C>T (p.His490=) single nucleotide variant not provided [RCV003716257] Chr16:86568805 [GRCh38]
Chr16:86602411 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.1298A>G (p.Asn433Ser) single nucleotide variant not provided [RCV003877588] Chr16:86568633 [GRCh38]
Chr16:86602239 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.1143G>A (p.Ala381=) single nucleotide variant not provided [RCV003738691] Chr16:86568478 [GRCh38]
Chr16:86602084 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.243C>T (p.Ile81=) single nucleotide variant not provided [RCV003662174] Chr16:86567578 [GRCh38]
Chr16:86601184 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.775C>A (p.His259Asn) single nucleotide variant not provided [RCV003691445] Chr16:86568110 [GRCh38]
Chr16:86601716 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.536A>G (p.Glu179Gly) single nucleotide variant not provided [RCV003659672] Chr16:86567871 [GRCh38]
Chr16:86601477 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.572C>T (p.Ser191Phe) single nucleotide variant not provided [RCV003548654] Chr16:86567907 [GRCh38]
Chr16:86601513 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.957G>T (p.Gln319His) single nucleotide variant not provided [RCV003717037] Chr16:86568292 [GRCh38]
Chr16:86601898 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.627G>A (p.Lys209=) single nucleotide variant not provided [RCV003698618] Chr16:86567962 [GRCh38]
Chr16:86601568 [GRCh37]
Chr16:16q24.1
benign
NM_005251.3(FOXC2):c.668C>T (p.Pro223Leu) single nucleotide variant not provided [RCV003667474] Chr16:86568003 [GRCh38]
Chr16:86601609 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.1043T>C (p.Met348Thr) single nucleotide variant not provided [RCV003815886] Chr16:86568378 [GRCh38]
Chr16:86601984 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.169G>T (p.Ala57Ser) single nucleotide variant not provided [RCV003706524] Chr16:86567504 [GRCh38]
Chr16:86601110 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.1168C>A (p.Gln390Lys) single nucleotide variant not provided [RCV003553509] Chr16:86568503 [GRCh38]
Chr16:86602109 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.602C>T (p.Ala201Val) single nucleotide variant Inborn genetic diseases [RCV004369150]|not provided [RCV003556609] Chr16:86567937 [GRCh38]
Chr16:86601543 [GRCh37]
Chr16:16q24.1
likely benign|uncertain significance
NM_005251.3(FOXC2):c.445G>C (p.Asp149His) single nucleotide variant not provided [RCV003712167] Chr16:86567780 [GRCh38]
Chr16:86601386 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.894G>A (p.Val298=) single nucleotide variant not provided [RCV003711037] Chr16:86568229 [GRCh38]
Chr16:86601835 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.971G>T (p.Gly324Val) single nucleotide variant not provided [RCV003678827] Chr16:86568306 [GRCh38]
Chr16:86601912 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.897G>T (p.Pro299=) single nucleotide variant not provided [RCV003729024] Chr16:86568232 [GRCh38]
Chr16:86601838 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.1354G>C (p.Glu452Gln) single nucleotide variant not provided [RCV003721845] Chr16:86568689 [GRCh38]
Chr16:86602295 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.21G>A (p.Val7=) single nucleotide variant not provided [RCV003684485] Chr16:86567356 [GRCh38]
Chr16:86600962 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.19G>A (p.Val7Met) single nucleotide variant not provided [RCV003727162] Chr16:86567354 [GRCh38]
Chr16:86600960 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.408C>T (p.Asp136=) single nucleotide variant not provided [RCV003681607] Chr16:86567743 [GRCh38]
Chr16:86601349 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.708G>A (p.Ala236=) single nucleotide variant FOXC2-related disorder [RCV003897194] Chr16:86568043 [GRCh38]
Chr16:86601649 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.748_751delinsAG (p.Gly250fs) indel FOXC2-related disorder [RCV003982659] Chr16:86568083..86568086 [GRCh38]
Chr16:86601689..86601692 [GRCh37]
Chr16:16q24.1
likely pathogenic
NM_005251.3(FOXC2):c.365A>C (p.His122Pro) single nucleotide variant FOXC2-related disorder [RCV003983409] Chr16:86567700 [GRCh38]
Chr16:86601306 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.390C>A (p.Phe130Leu) single nucleotide variant Distichiasis-lymphedema syndrome [RCV004556953] Chr16:86567725 [GRCh38]
Chr16:86601331 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.984del (p.Tyr329fs) deletion FOXC2-related disorder [RCV003896623] Chr16:86568319 [GRCh38]
Chr16:86601925 [GRCh37]
Chr16:16q24.1
likely pathogenic
NM_005251.3(FOXC2):c.312C>T (p.Asp104=) single nucleotide variant FOXC2-related disorder [RCV003973952] Chr16:86567647 [GRCh38]
Chr16:86601253 [GRCh37]
Chr16:16q24.1
likely benign
NM_005251.3(FOXC2):c.1430G>C (p.Cys477Ser) single nucleotide variant not provided [RCV003887756] Chr16:86568765 [GRCh38]
Chr16:86602371 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.1154C>G (p.Thr385Arg) single nucleotide variant Inborn genetic diseases [RCV004392145] Chr16:86568489 [GRCh38]
Chr16:86602095 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.787G>A (p.Ala263Thr) single nucleotide variant Inborn genetic diseases [RCV004392148] Chr16:86568122 [GRCh38]
Chr16:86601728 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.1105dup (p.Leu369fs) duplication Distichiasis-lymphedema syndrome [RCV004555159] Chr16:86568436..86568437 [GRCh38]
Chr16:86602042..86602043 [GRCh37]
Chr16:16q24.1
likely pathogenic
NM_005251.3(FOXC2):c.1108A>G (p.Ser370Gly) single nucleotide variant Inborn genetic diseases [RCV004392144] Chr16:86568443 [GRCh38]
Chr16:86602049 [GRCh37]
Chr16:16q24.1
uncertain significance
GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3 copy number gain not provided [RCV004577473] Chr16:82865402..90163542 [GRCh37]
Chr16:16q23.3-24.3
pathogenic
NM_005251.3(FOXC2):c.161G>A (p.Arg54His) single nucleotide variant Inborn genetic diseases [RCV004392146] Chr16:86567496 [GRCh38]
Chr16:86601102 [GRCh37]
Chr16:16q24.1
uncertain significance
NM_005251.3(FOXC2):c.608C>A (p.Ala203Asp) single nucleotide variant Inborn genetic diseases [RCV004392147] Chr16:86567943 [GRCh38]
Chr16:86601549 [GRCh37]
Chr16:16q24.1
uncertain significance
NC_000016.9:g.(?_86544176)_(86602447_?)del deletion not provided [RCV004582856] Chr16:86544176..86602447 [GRCh37] pathogenic
NC_000016.9:g.(?_86544176)_(86602447_?)dup duplication not provided [RCV004582857] Chr16:86544176..86602447 [GRCh37] uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:395
Count of miRNA genes:363
Interacting mature miRNAs:387
Transcripts:ENST00000320354
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
UniSTS:480884  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371686,600,942 - 86,602,447UniSTSGRCh37
Celera1670,901,905 - 70,903,411UniSTS
HuRef1672,340,834 - 72,342,253UniSTS
UniSTS:483146  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371686,600,857 - 86,602,539UniSTSGRCh37
Celera1670,901,820 - 70,903,503UniSTS
HuRef1672,340,749 - 72,342,345UniSTS


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 1
Medium 21 1344 58 12 1 6 1355 38 675 85 79 88 10 87 1274
Low 1634 899 1207 217 188 69 2103 1591 1496 271 1095 1309 156 1 1080 930 1
Below cutoff 710 430 380 320 911 315 865 554 1520 54 193 112 8 37 583 3

Sequence


RefSeq Acc Id: ENST00000649859   ⟹   ENSP00000497759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1686,566,829 - 86,569,728 (+)Ensembl
RefSeq Acc Id: NM_005251   ⟹   NP_005242
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381686,566,829 - 86,569,728 (+)NCBI
GRCh371686,600,857 - 86,602,539 (+)ENTREZGENE
Build 361685,158,443 - 85,159,948 (+)NCBI Archive
HuRef1672,340,749 - 72,342,345 (+)ENTREZGENE
CHM1_11688,012,585 - 88,014,267 (+)NCBI
T2T-CHM13v2.01692,635,146 - 92,638,044 (+)NCBI
Sequence:
RefSeq Acc Id: NP_005242   ⟸   NM_005251
- UniProtKB: C6KMR9 (UniProtKB/Swiss-Prot),   Q14DA6 (UniProtKB/Swiss-Prot),   Q99958 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000497759   ⟸   ENST00000649859
Protein Domains
Fork-head

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q99958-F1-model_v2 AlphaFold Q99958 1-501 view protein structure

Promoters
RGD ID:6793136
Promoter ID:HG_KWN:24419
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_005251,   OTTHUMT00000269104
Position:
Human AssemblyChrPosition (strand)Source
Build 361685,158,371 - 85,159,322 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3801 AgrOrtholog
COSMIC FOXC2 COSMIC
Ensembl Genes ENSG00000176692 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000649859 ENTREZGENE
  ENST00000649859.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000176692 GTEx
HGNC ID HGNC:3801 ENTREZGENE
Human Proteome Map FOXC2 Human Proteome Map
InterPro Fork_head_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FOXC1/C2-like_FH UniProtKB/Swiss-Prot
  TF_fork_head_CS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_fork_head_CS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2303 UniProtKB/Swiss-Prot
NCBI Gene 2303 ENTREZGENE
OMIM 602402 OMIM
PANTHER FORKHEAD BOX PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FORKHEAD BOX PROTEIN C2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Forkhead UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28218 PharmGKB
PRINTS FORKHEAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FORK_HEAD_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FORK_HEAD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FORK_HEAD_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00339 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C6KMR9 ENTREZGENE
  FOXC2_HUMAN UniProtKB/Swiss-Prot
  I6YRR3_HUMAN UniProtKB/TrEMBL
  I6Z262_HUMAN UniProtKB/TrEMBL
  I6ZMK0_HUMAN UniProtKB/TrEMBL
  I6ZVX6_HUMAN UniProtKB/TrEMBL
  I6ZZT5_HUMAN UniProtKB/TrEMBL
  I6ZZU0_HUMAN UniProtKB/TrEMBL
  Q14DA6 ENTREZGENE
  Q99958 ENTREZGENE
UniProt Secondary C6KMR9 UniProtKB/Swiss-Prot
  Q14DA6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-12-23 FOXC2  forkhead box C2    forkhead box C2 (MFH-1, mesenchyme forkhead 1)  Symbol and/or name change 5135510 APPROVED