FOXN1 (forkhead box N1) - Rat Genome Database

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Gene: FOXN1 (forkhead box N1) Homo sapiens
Analyze
Symbol: FOXN1
Name: forkhead box N1
RGD ID: 1349825
HGNC Page HGNC:12765
Description: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and transcription cis-regulatory region binding activity. Involved in positive regulation of epithelial cell differentiation. Predicted to be located in nucleus. Predicted to be part of chromatin. Implicated in T-cell immunodeficiency, congenital alopecia, and nail dystrophy; alopecia; nail disease; and primary immunodeficiency disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FKHL20; forkhead box protein N1; RONU; Rowett nude; TIDAND; TLIND; WHN; winged helix nude; winged-helix nude; winged-helix transcription factor nude
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381728,506,348 - 28,538,900 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1728,506,243 - 28,538,900 (+)EnsemblGRCh38hg38GRCh38
GRCh371726,833,366 - 26,865,918 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361723,875,086 - 23,889,302 (+)NCBINCBI36Build 36hg18NCBI36
Build 341723,875,085 - 23,889,302NCBI
Celera1723,709,983 - 23,724,203 (+)NCBICelera
Cytogenetic Map17q11.2NCBI
HuRef1723,059,775 - 23,073,995 (+)NCBIHuRef
CHM1_11726,912,657 - 26,926,877 (+)NCBICHM1_1
T2T-CHM13v2.01729,449,365 - 29,481,520 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (ISA)
nucleus  (IEA,TAS)

References

References - curated
# Reference Title Reference Citation
1. Exposing the human nude phenotype. Frank J, etal., Nature. 1999 Apr 8;398(6727):473-4.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Hypomorphic phenotype of Foxn1 gene-modified rats by CRISPR/Cas9 system. Goto T, etal., Transgenic Res. 2016 Aug;25(4):533-44. doi: 10.1007/s11248-016-9941-9. Epub 2016 Mar 2.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7969402   PMID:9321431   PMID:10483588   PMID:10767081   PMID:15180707   PMID:15316080   PMID:16232301   PMID:17592270   PMID:17803914   PMID:19274049   PMID:19729838   PMID:20429426  
PMID:20634891   PMID:21507891   PMID:21873635   PMID:22721479   PMID:23922987   PMID:24383669   PMID:25173801   PMID:25609649   PMID:26352270   PMID:28636882   PMID:28819138   PMID:31447097  
PMID:31566583   PMID:31914405   PMID:32296183   PMID:33464451   PMID:34373451   PMID:35527675   PMID:35675826   PMID:36631020   PMID:37419334  


Genomics

Comparative Map Data
FOXN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381728,506,348 - 28,538,900 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1728,506,243 - 28,538,900 (+)EnsemblGRCh38hg38GRCh38
GRCh371726,833,366 - 26,865,918 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361723,875,086 - 23,889,302 (+)NCBINCBI36Build 36hg18NCBI36
Build 341723,875,085 - 23,889,302NCBI
Celera1723,709,983 - 23,724,203 (+)NCBICelera
Cytogenetic Map17q11.2NCBI
HuRef1723,059,775 - 23,073,995 (+)NCBIHuRef
CHM1_11726,912,657 - 26,926,877 (+)NCBICHM1_1
T2T-CHM13v2.01729,449,365 - 29,481,520 (+)NCBIT2T-CHM13v2.0
Foxn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391178,248,403 - 78,277,597 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1178,248,403 - 78,277,384 (-)EnsemblGRCm39 Ensembl
GRCm381178,357,577 - 78,386,783 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1178,357,577 - 78,386,558 (-)EnsemblGRCm38mm10GRCm38
MGSCv371178,171,790 - 78,200,060 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361178,174,483 - 78,202,753 (-)NCBIMGSCv36mm8
Celera1187,990,370 - 88,018,640 (-)NCBICelera
Cytogenetic Map11B5NCBI
cM Map1146.74NCBI
Foxn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81063,749,461 - 63,778,468 (-)NCBIGRCr8
mRatBN7.21063,251,400 - 63,273,710 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1063,251,400 - 63,273,710 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1067,883,721 - 67,906,099 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01067,389,050 - 67,411,428 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01062,860,147 - 62,882,662 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01065,621,142 - 65,634,666 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1065,621,257 - 65,634,666 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01066,004,940 - 66,030,134 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41064,243,323 - 64,256,847 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1062,229,663 - 62,243,188 (-)NCBICelera
Cytogenetic Map10q25NCBI
Foxn1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554814,611,087 - 4,627,113 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554814,611,246 - 4,640,606 (-)NCBIChiLan1.0ChiLan1.0
FOXN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21935,921,399 - 35,954,659 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11737,801,555 - 37,834,927 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01728,237,150 - 28,272,010 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11728,740,775 - 28,773,592 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1728,740,775 - 28,773,592 (-)Ensemblpanpan1.1panPan2
FOXN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1942,734,228 - 42,749,856 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl942,735,656 - 42,748,632 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha941,878,088 - 41,906,518 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0943,540,303 - 43,568,825 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl943,540,213 - 43,567,599 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1942,323,418 - 42,351,882 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0942,615,833 - 42,644,325 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0942,693,335 - 42,721,782 (+)NCBIUU_Cfam_GSD_1.0
Foxn1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560241,839,546 - 41,868,057 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365384,731,958 - 4,744,796 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365384,717,509 - 4,745,504 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FOXN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1244,765,258 - 44,795,260 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11244,764,427 - 44,796,138 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21246,757,094 - 46,780,509 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FOXN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11622,291,597 - 22,306,977 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1622,292,330 - 22,305,968 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660757,819,856 - 7,835,084 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Foxn1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247861,114,305 - 1,127,683 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247861,114,305 - 1,127,787 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FOXN1
449 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001369369.1(FOXN1):c.1757G>A (p.Cys586Tyr) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000546006] Chr17:28537246 [GRCh38]
Chr17:26864264 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.763C>T (p.Arg255Ter) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000009300]|T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [RCV001027389] Chr17:28529157 [GRCh38]
Chr17:26856175 [GRCh37]
Chr17:17q11.2
pathogenic
NM_001369369.1(FOXN1):c.1364_1367del (p.Tyr455fs) deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001859402]|T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [RCV001564041]|not provided [RCV001780407] Chr17:28534934..28534937 [GRCh38]
Chr17:26861952..26861955 [GRCh37]
Chr17:17q11.2
pathogenic|likely pathogenic
NM_001369369.1(FOXN1):c.930A>G (p.Thr310=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000547211] Chr17:28534333 [GRCh38]
Chr17:26861351 [GRCh37]
Chr17:17q11.2
likely benign
NM_003593.2(FOXN1):c.53G>A (p.Arg18Lys) single nucleotide variant Malignant melanoma [RCV000071378] Chr17:28524022 [GRCh38]
Chr17:26851040 [GRCh37]
Chr17:23875167 [NCBI36]
Chr17:17q11.2
not provided
NM_001369369.1(FOXN1):c.1753C>T (p.Pro585Ser) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001303087] Chr17:28537242 [GRCh38]
Chr17:26864260 [GRCh37]
Chr17:17q11.2
uncertain significance
GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3 copy number gain See cases [RCV000136494] Chr17:28283125..28904397 [GRCh38]
Chr17:26610151..27231415 [GRCh37]
Chr17:23634278..24255541 [NCBI36]
Chr17:17q11.2
benign
NM_001369369.1(FOXN1):c.146C>T (p.Ser49Leu) single nucleotide variant Autism [RCV000192344] Chr17:28524525 [GRCh38]
Chr17:26851543 [GRCh37]
Chr17:17q11.2
likely pathogenic
GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3 copy number gain not provided [RCV000762776] Chr17:25403446..31685464 [GRCh37]
Chr17:17q11.1-11.2
likely pathogenic
NM_001369369.1(FOXN1):c.1289C>T (p.Pro430Leu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000552110] Chr17:28534860 [GRCh38]
Chr17:26861878 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1443G>T (p.Leu481=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000283804] Chr17:28535014 [GRCh38]
Chr17:26862032 [GRCh37]
Chr17:17q11.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001369369.1(FOXN1):c.205C>T (p.Arg69Cys) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000286412]|not provided [RCV001824734]|not specified [RCV000432702] Chr17:28524584 [GRCh38]
Chr17:26851602 [GRCh37]
Chr17:17q11.2
benign|not provided
NM_001369369.1(FOXN1):c.1657A>G (p.Ser553Gly) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000287570] Chr17:28537146 [GRCh38]
Chr17:26864164 [GRCh37]
Chr17:17q11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001369369.1(FOXN1):c.1184C>T (p.Pro395Leu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000261534] Chr17:28534755 [GRCh38]
Chr17:26861773 [GRCh37]
Chr17:17q11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001369369.1(FOXN1):c.*206G>A single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000299445] Chr17:28537642 [GRCh38]
Chr17:26864660 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.*454A>C single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000264607] Chr17:28537890 [GRCh38]
Chr17:26864908 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.550C>A (p.Leu184Ile) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000308164] Chr17:28524929 [GRCh38]
Chr17:26851947 [GRCh37]
Chr17:17q11.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001369369.1(FOXN1):c.*620C>T single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000270507] Chr17:28538056 [GRCh38]
Chr17:26865074 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1706C>A (p.Ser569Tyr) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000344775]|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001838998] Chr17:28537195 [GRCh38]
Chr17:26864213 [GRCh37]
Chr17:17q11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001369369.1(FOXN1):c.714T>C (p.Gly238=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000368559]|not specified [RCV000425758] Chr17:28529108 [GRCh38]
Chr17:26856126 [GRCh37]
Chr17:17q11.2
benign|likely benign
NM_001369369.1(FOXN1):c.589-12C>A single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000369814] Chr17:28527239 [GRCh38]
Chr17:26854257 [GRCh37]
Chr17:17q11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001369369.1(FOXN1):c.539G>C (p.Trp180Ser) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000348005] Chr17:28524918 [GRCh38]
Chr17:26851936 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.*15C>T single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000348384] Chr17:28537451 [GRCh38]
Chr17:26864469 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1135+3G>A single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000320056] Chr17:28534541 [GRCh38]
Chr17:26861559 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1795G>C (p.Ala599Pro) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000399481]|not provided [RCV001824737]|not specified [RCV000436902] Chr17:28537284 [GRCh38]
Chr17:26864302 [GRCh37]
Chr17:17q11.2
benign|not provided
NM_001369369.1(FOXN1):c.1549G>T (p.Asp517Tyr) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000322459] Chr17:28535120 [GRCh38]
Chr17:26862138 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1216G>A (p.Gly406Ser) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000323469] Chr17:28534787 [GRCh38]
Chr17:26861805 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.279C>G (p.Leu93=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000401710] Chr17:28524658 [GRCh38]
Chr17:26851676 [GRCh37]
Chr17:17q11.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001369369.1(FOXN1):c.1288C>T (p.Pro430Ser) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000380418]|not specified [RCV000437225] Chr17:28534859 [GRCh38]
Chr17:26861877 [GRCh37]
Chr17:17q11.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001369369.1(FOXN1):c.497C>T (p.Ala166Val) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000309436] Chr17:28524876 [GRCh38]
Chr17:26851894 [GRCh37]
Chr17:17q11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001369369.1(FOXN1):c.1135+8C>T single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000354028]|not provided [RCV001824736]|not specified [RCV000437443] Chr17:28534546 [GRCh38]
Chr17:26861564 [GRCh37]
Chr17:17q11.2
benign|not provided
NM_001369369.1(FOXN1):c.159C>T (p.Ser53=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000378587] Chr17:28524538 [GRCh38]
Chr17:26851556 [GRCh37]
Chr17:17q11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001369369.1(FOXN1):c.709G>A (p.Gly237Ser) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000311496] Chr17:28529103 [GRCh38]
Chr17:26856121 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.*254G>A single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000356658]|not provided [RCV001613034] Chr17:28537690 [GRCh38]
Chr17:26864708 [GRCh37]
Chr17:17q11.2
benign
NM_001369369.1(FOXN1):c.1556T>A (p.Leu519Gln) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000384269]|not provided [RCV000487106] Chr17:28535127 [GRCh38]
Chr17:26862145 [GRCh37]
Chr17:17q11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001369369.1(FOXN1):c.*280C>G single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000407493] Chr17:28537716 [GRCh38]
Chr17:26864734 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.226G>A (p.Glu76Lys) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000339213] Chr17:28524605 [GRCh38]
Chr17:26851623 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1195_1225del (p.Cys399fs) deletion not provided [RCV000379300] Chr17:28534765..28534795 [GRCh38]
Chr17:26861783..26861813 [GRCh37]
Chr17:17q11.2
likely pathogenic
NM_001369369.1(FOXN1):c.*626G>C single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000384572] Chr17:28538062 [GRCh38]
Chr17:26865080 [GRCh37]
Chr17:17q11.2
likely benign|uncertain significance
NM_001369369.1(FOXN1):c.*154G>A single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000399792] Chr17:28537590 [GRCh38]
Chr17:26864608 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.852T>C (p.Leu284=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000262673]|not provided [RCV001824735]|not specified [RCV000423496] Chr17:28530770 [GRCh38]
Chr17:26857788 [GRCh37]
Chr17:17q11.2
benign|not provided
NM_001369369.1(FOXN1):c.*300C>T single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000299977] Chr17:28537736 [GRCh38]
Chr17:26864754 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.546C>T (p.Asn182=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000389956]|not provided [RCV001726114]|not specified [RCV000607210] Chr17:28524925 [GRCh38]
Chr17:26851943 [GRCh37]
Chr17:17q11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001369369.1(FOXN1):c.1206del (p.Leu404fs) deletion not provided [RCV000489462] Chr17:28534777 [GRCh38]
Chr17:26861795 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1822C>T (p.Leu608=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000295848] Chr17:28537311 [GRCh38]
Chr17:26864329 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.*461C>T single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000324471] Chr17:28537897 [GRCh38]
Chr17:26864915 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.611C>T (p.Pro204Leu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000391661] Chr17:28527273 [GRCh38]
Chr17:26854291 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.*622C>G single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000325378] Chr17:28538058 [GRCh38]
Chr17:26865076 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.*318A>G single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000359388] Chr17:28537754 [GRCh38]
Chr17:26864772 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.*496C>T single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000360378] Chr17:28537932 [GRCh38]
Chr17:26864950 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1436T>C (p.Leu479Pro) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000806376] Chr17:28535007 [GRCh38]
Chr17:26862025 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.9G>A (p.Ser3=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000559329]|not specified [RCV000613544] Chr17:28523978 [GRCh38]
Chr17:26850996 [GRCh37]
Chr17:17q11.2
benign|likely benign
NM_001369369.1(FOXN1):c.1247del (p.Pro416fs) deletion Relative macrocephaly [RCV000735312]|See cases [RCV003156116] Chr17:28534814 [GRCh38]
Chr17:26861832 [GRCh37]
Chr17:17q11.2
likely pathogenic
NM_001369369.1(FOXN1):c.1445G>A (p.Arg482Gln) single nucleotide variant Inborn genetic diseases [RCV003243277]|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001211654]|not provided [RCV000728815] Chr17:28535016 [GRCh38]
Chr17:26862034 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.321C>T (p.Ala107=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000558396]|not provided [RCV001559887] Chr17:28524700 [GRCh38]
Chr17:26851718 [GRCh37]
Chr17:17q11.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001369369.1(FOXN1):c.1425G>A (p.Pro475=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000532696]|not specified [RCV000427402] Chr17:28534996 [GRCh38]
Chr17:26862014 [GRCh37]
Chr17:17q11.2
benign|likely benign
NM_001369369.1(FOXN1):c.962A>G (p.His321Arg) single nucleotide variant not provided [RCV000434343] Chr17:28534365 [GRCh38]
Chr17:26861383 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.123+11G>A single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001122374]|not specified [RCV000428546] Chr17:28524103 [GRCh38]
Chr17:26851121 [GRCh37]
Chr17:17q11.2
benign|likely benign
NM_001369369.1(FOXN1):c.573T>C (p.His191=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001482344]|not specified [RCV000428776] Chr17:28524952 [GRCh38]
Chr17:26851970 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.830+19A>G single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001518291]|not specified [RCV000440280] Chr17:28529243 [GRCh38]
Chr17:26856261 [GRCh37]
Chr17:17q11.2
benign
NM_001369369.1(FOXN1):c.1215C>T (p.Ser405=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000531478]|not specified [RCV000420167] Chr17:28534786 [GRCh38]
Chr17:26861804 [GRCh37]
Chr17:17q11.2
benign|likely benign
NM_001369369.1(FOXN1):c.124-20G>A single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001518211]|not specified [RCV000420463] Chr17:28524483 [GRCh38]
Chr17:26851501 [GRCh37]
Chr17:17q11.2
benign
NM_001369369.1(FOXN1):c.907del (p.Glu303fs) deletion T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [RCV001027399]|not provided [RCV000479476] Chr17:28530824 [GRCh38]
Chr17:26857842 [GRCh37]
Chr17:17q11.2
pathogenic|uncertain significance
NM_001369369.1(FOXN1):c.1315del (p.Leu439fs) deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001046946]|not provided [RCV000484215] Chr17:28534882 [GRCh38]
Chr17:26861900 [GRCh37]
Chr17:17q11.2
pathogenic|uncertain significance
NM_001369369.1(FOXN1):c.1168_1169del (p.Glu390fs) microsatellite not provided [RCV000478266] Chr17:28534734..28534735 [GRCh38]
Chr17:26861752..26861753 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1135+1_1135+2delinsAG indel T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002526627]|not provided [RCV000480185] Chr17:28534539..28534540 [GRCh38]
Chr17:26861557..26861558 [GRCh37]
Chr17:17q11.2
likely pathogenic
NM_001369369.1(FOXN1):c.1201_1216del (p.Pro401fs) deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000555732]|T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [RCV001027396]|not provided [RCV000480423] Chr17:28534759..28534774 [GRCh38]
Chr17:26861777..26861792 [GRCh37]
Chr17:17q11.2
pathogenic|likely pathogenic|uncertain significance
NM_001369369.1(FOXN1):c.1710G>A (p.Ser570=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000892738]|not specified [RCV000508535] Chr17:28537199 [GRCh38]
Chr17:26864217 [GRCh37]
Chr17:17q11.2
benign
NM_001369369.1(FOXN1):c.1021C>T (p.Arg341Cys) single nucleotide variant not specified [RCV000506756] Chr17:28534424 [GRCh38]
Chr17:26861442 [GRCh37]
Chr17:17q11.2
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_001369369.1(FOXN1):c.79C>T (p.Leu27Phe) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000530196] Chr17:28524048 [GRCh38]
Chr17:26851066 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1618G>A (p.Asp540Asn) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000644877]|not provided [RCV003222076] Chr17:28535189 [GRCh38]
Chr17:26862207 [GRCh37]
Chr17:17q11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1 copy number loss Mitogen-activated protein kinase kinase inhibitor response [RCV000626439] Chr17:25248166..30645676 [GRCh37]
Chr17:17q11.1-11.2
drug response
NM_001369369.1(FOXN1):c.1444C>T (p.Arg482Trp) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000644878] Chr17:28535015 [GRCh38]
Chr17:26862033 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.699+1G>T single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000644876] Chr17:28527362 [GRCh38]
Chr17:26854380 [GRCh37]
Chr17:17q11.2
likely pathogenic
NM_001369369.1(FOXN1):c.572A>G (p.His191Arg) single nucleotide variant Inborn genetic diseases [RCV003239790] Chr17:28524951 [GRCh38]
Chr17:26851969 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.787G>A (p.Asp263Asn) single nucleotide variant Inborn genetic diseases [RCV002528912]|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000644875] Chr17:28529181 [GRCh38]
Chr17:26856199 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1476T>A (p.Pro492=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000644883] Chr17:28535047 [GRCh38]
Chr17:26862065 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.537C>T (p.Ala179=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000644882] Chr17:28524916 [GRCh38]
Chr17:26851934 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.62G>A (p.Gly21Asp) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000644880] Chr17:28524031 [GRCh38]
Chr17:26851049 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1697C>T (p.Pro566Leu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000644879] Chr17:28537186 [GRCh38]
Chr17:26864204 [GRCh37]
Chr17:17q11.2
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_001369369.1(FOXN1):c.892T>C (p.Tyr298His) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000685861] Chr17:28530810 [GRCh38]
Chr17:26857828 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1445_1449delinsCCA (p.Arg482fs) indel T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000699596] Chr17:28535016..28535020 [GRCh38]
Chr17:26862034..26862038 [GRCh37]
Chr17:17q11.2
pathogenic
NM_001369369.1(FOXN1):c.965A>G (p.Asn322Ser) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000694714] Chr17:28534368 [GRCh38]
Chr17:26861386 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.724C>T (p.Pro242Ser) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000694759] Chr17:28529118 [GRCh38]
Chr17:26856136 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.610C>T (p.Pro204Ser) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000692459] Chr17:28527272 [GRCh38]
Chr17:26854290 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1381G>A (p.Gly461Ser) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000703851] Chr17:28534952 [GRCh38]
Chr17:26861970 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.194C>A (p.Pro65Gln) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000692958] Chr17:28524573 [GRCh38]
Chr17:26851591 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.254G>A (p.Gly85Asp) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000691339] Chr17:28524633 [GRCh38]
Chr17:26851651 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.382C>T (p.Arg128Trp) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000767976]|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003224404] Chr17:28524761 [GRCh38]
Chr17:26851779 [GRCh37]
Chr17:17q11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001369369.1(FOXN1):c.1585del (p.Leu529fs) deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000768224]|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003227853] Chr17:28535155 [GRCh38]
Chr17:26862173 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.-14-163TC[23] microsatellite not provided [RCV001643776] Chr17:28523792..28523793 [GRCh38]
Chr17:26850810..26850811 [GRCh37]
Chr17:17q11.2
benign
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_001369369.1(FOXN1):c.1628-212C>T single nucleotide variant not provided [RCV001530627] Chr17:28536905 [GRCh38]
Chr17:26863923 [GRCh37]
Chr17:17q11.2
benign
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p11.2-q11.2(chr17:21279289-27474974)x2 copy number gain not provided [RCV000739439] Chr17:21279289..27474974 [GRCh37]
Chr17:17p11.2-q11.2
likely pathogenic
NM_001369369.1(FOXN1):c.588+166C>T single nucleotide variant not provided [RCV001724436] Chr17:28525133 [GRCh38]
Chr17:26852151 [GRCh37]
Chr17:17q11.2
benign
NM_001369369.1(FOXN1):c.1370del (p.His457fs) deletion T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [RCV001678593] Chr17:28534941 [GRCh38]
Chr17:26861959 [GRCh37]
Chr17:17q11.2
pathogenic
NM_001369369.1(FOXN1):c.258C>T (p.Pro86=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002542315] Chr17:28524637 [GRCh38]
Chr17:26851655 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1232G>A (p.Arg411Gln) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001423789]|not provided [RCV000960614] Chr17:28534803 [GRCh38]
Chr17:26861821 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.-14-69G>T single nucleotide variant not provided [RCV001574522] Chr17:28523887 [GRCh38]
Chr17:26850905 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.-14-163TC[16] microsatellite not provided [RCV001645164] Chr17:28523793..28523800 [GRCh38]
Chr17:26850811..26850818 [GRCh37]
Chr17:17q11.2
benign
NM_001369369.1(FOXN1):c.1135+9G>A single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001409533] Chr17:28534547 [GRCh38]
Chr17:26861565 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.147G>C (p.Ser49=) single nucleotide variant not provided [RCV000922053] Chr17:28524526 [GRCh38]
Chr17:26851544 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1266A>G (p.Pro422=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001479163] Chr17:28534837 [GRCh38]
Chr17:26861855 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1131G>A (p.Lys377=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000948994] Chr17:28534534 [GRCh38]
Chr17:26861552 [GRCh37]
Chr17:17q11.2
benign|conflicting interpretations of pathogenicity
NM_001369369.1(FOXN1):c.20C>T (p.Pro7Leu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000969002] Chr17:28523989 [GRCh38]
Chr17:26851007 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1064A>G (p.Lys355Arg) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001044785] Chr17:28534467 [GRCh38]
Chr17:26861485 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.971C>A (p.Ser324Tyr) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001047401] Chr17:28534374 [GRCh38]
Chr17:26861392 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.905C>T (p.Thr302Met) single nucleotide variant Inborn genetic diseases [RCV003160381]|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001048978] Chr17:28530823 [GRCh38]
Chr17:26857841 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1465del (p.Gln489fs) deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001078468]|T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [RCV003147589] Chr17:28535031 [GRCh38]
Chr17:26862049 [GRCh37]
Chr17:17q11.2
pathogenic|likely pathogenic
NM_001369369.1(FOXN1):c.1207G>A (p.Gly403Arg) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001061838] Chr17:28534778 [GRCh38]
Chr17:26861796 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.322G>A (p.Ala108Thr) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001066157] Chr17:28524701 [GRCh38]
Chr17:26851719 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1783G>A (p.Gly595Ser) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001071094] Chr17:28537272 [GRCh38]
Chr17:26864290 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1492C>T (p.Pro498Ser) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001069570] Chr17:28535063 [GRCh38]
Chr17:26862081 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.41C>T (p.Pro14Leu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000793326] Chr17:28524010 [GRCh38]
Chr17:26851028 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.687C>T (p.Pro229=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001488109] Chr17:28527349 [GRCh38]
Chr17:26854367 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1812C>A (p.Gly604=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000896497] Chr17:28537301 [GRCh38]
Chr17:26864319 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1701ATC[1] (p.Ser570del) microsatellite T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000813872] Chr17:28537189..28537191 [GRCh38]
Chr17:26864207..26864209 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.728_729dup (p.Pro244fs) duplication T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000821088] Chr17:28529120..28529121 [GRCh38]
Chr17:26856138..26856139 [GRCh37]
Chr17:17q11.2
pathogenic
NM_001369369.1(FOXN1):c.704C>T (p.Ser235Leu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000823349]|not provided [RCV001357686] Chr17:28529098 [GRCh38]
Chr17:26856116 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1709C>T (p.Ser570Leu) single nucleotide variant FOXN1-related condition [RCV003411791]|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000810409] Chr17:28537198 [GRCh38]
Chr17:26864216 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1283del (p.Pro428fs) deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000810199] Chr17:28534852 [GRCh38]
Chr17:26861870 [GRCh37]
Chr17:17q11.2
pathogenic|uncertain significance
NM_001369369.1(FOXN1):c.160G>A (p.Asp54Asn) single nucleotide variant Inborn genetic diseases [RCV002536014]|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000824181] Chr17:28524539 [GRCh38]
Chr17:26851557 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.961C>A (p.His321Asn) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000821655]|T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [RCV001027395] Chr17:28534364 [GRCh38]
Chr17:26861382 [GRCh37]
Chr17:17q11.2
pathogenic|uncertain significance
NM_001369369.1(FOXN1):c.1392_1401del (p.Pro465fs) deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000824264]|T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [RCV001027398] Chr17:28534960..28534969 [GRCh38]
Chr17:26861978..26861987 [GRCh37]
Chr17:17q11.2
pathogenic|uncertain significance
NM_001369369.1(FOXN1):c.880G>C (p.Val294Leu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000798236] Chr17:28530798 [GRCh38]
Chr17:26857816 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1429G>A (p.Gly477Arg) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000818143] Chr17:28535000 [GRCh38]
Chr17:26862018 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1420C>T (p.Gln474Ter) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000818184] Chr17:28534991 [GRCh38]
Chr17:26862009 [GRCh37]
Chr17:17q11.2
pathogenic
NM_001369369.1(FOXN1):c.82A>G (p.Met28Val) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000814715] Chr17:28524051 [GRCh38]
Chr17:26851069 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1412T>G (p.Leu471Trp) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000815000] Chr17:28534983 [GRCh38]
Chr17:26862001 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.950A>C (p.Asn317Thr) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000808860] Chr17:28534353 [GRCh38]
Chr17:26861371 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.974T>C (p.Leu325Pro) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000813095] Chr17:28534377 [GRCh38]
Chr17:26861395 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1749del (p.Cys586fs) deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000815804]|not specified [RCV003479225] Chr17:28537238 [GRCh38]
Chr17:26864256 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.376T>C (p.Tyr126His) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000823737] Chr17:28524755 [GRCh38]
Chr17:26851773 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.970T>A (p.Ser324Thr) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000797866] Chr17:28534373 [GRCh38]
Chr17:26861391 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1086dup (p.Trp363fs) duplication T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000792460] Chr17:28534484..28534485 [GRCh38]
Chr17:26861502..26861503 [GRCh37]
Chr17:17q11.2
pathogenic
NM_001369369.1(FOXN1):c.1178G>A (p.Gly393Asp) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000802745] Chr17:28534749 [GRCh38]
Chr17:26861767 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.832A>G (p.Ile278Val) single nucleotide variant Inborn genetic diseases [RCV002536959]|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000793325]|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002487652] Chr17:28530750 [GRCh38]
Chr17:26857768 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1315C>A (p.Leu439Met) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000795974] Chr17:28534886 [GRCh38]
Chr17:26861904 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1050G>A (p.Pro350=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000795694]|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003224472] Chr17:28534453 [GRCh38]
Chr17:26861471 [GRCh37]
Chr17:17q11.2
likely benign|uncertain significance
NM_001369369.1(FOXN1):c.1811G>T (p.Gly604Val) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000807963] Chr17:28537300 [GRCh38]
Chr17:26864318 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1454C>T (p.Pro485Leu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000794643] Chr17:28535025 [GRCh38]
Chr17:26862043 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.547G>A (p.Gly183Arg) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001231065]|not provided [RCV003145439] Chr17:28524926 [GRCh38]
Chr17:26851944 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.163G>A (p.Gly55Ser) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001202995] Chr17:28524542 [GRCh38]
Chr17:26851560 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.92C>T (p.Pro31Leu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001239259] Chr17:28524061 [GRCh38]
Chr17:26851079 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.161A>G (p.Asp54Gly) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001225842] Chr17:28524540 [GRCh38]
Chr17:26851558 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.764G>A (p.Arg255Gln) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001209424] Chr17:28529158 [GRCh38]
Chr17:26856176 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.890T>C (p.Ile297Thr) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001226768] Chr17:28530808 [GRCh38]
Chr17:26857826 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1632C>G (p.Asn544Lys) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001238360] Chr17:28537121 [GRCh38]
Chr17:26864139 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.63C>T (p.Gly21=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001226381] Chr17:28524032 [GRCh38]
Chr17:26851050 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1895C>T (p.Ala632Val) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001226049] Chr17:28537384 [GRCh38]
Chr17:26864402 [GRCh37]
Chr17:17q11.2
uncertain significance
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3 copy number gain not provided [RCV000846852] Chr17:21690653..38772647 [GRCh37]
Chr17:17p11.2-q21.2
pathogenic
NM_001369369.1(FOXN1):c.436G>A (p.Gly146Arg) single nucleotide variant Inborn genetic diseases [RCV003246162] Chr17:28524815 [GRCh38]
Chr17:26851833 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.123+10C>T single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001122373] Chr17:28524102 [GRCh38]
Chr17:26851120 [GRCh37]
Chr17:17q11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001369369.1(FOXN1):c.1554C>T (p.Thr518=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001122479] Chr17:28535125 [GRCh38]
Chr17:26862143 [GRCh37]
Chr17:17q11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001369369.1(FOXN1):c.1815C>T (p.Ser605=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001125265] Chr17:28537304 [GRCh38]
Chr17:26864322 [GRCh37]
Chr17:17q11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001369369.1(FOXN1):c.*53C>T single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001126240] Chr17:28537489 [GRCh38]
Chr17:26864507 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.*165C>G single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001126242] Chr17:28537601 [GRCh38]
Chr17:26864619 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1231C>T (p.Arg411Trp) single nucleotide variant Inborn genetic diseases [RCV002560289]|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001201607] Chr17:28534802 [GRCh38]
Chr17:26861820 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.700-301G>A single nucleotide variant not provided [RCV001608485] Chr17:28528793 [GRCh38]
Chr17:26855811 [GRCh37]
Chr17:17q11.2
benign
NM_001369369.1(FOXN1):c.589-110A>T single nucleotide variant not provided [RCV001557089] Chr17:28527141 [GRCh38]
Chr17:26854159 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.-14-45del deletion not provided [RCV001593803] Chr17:28523911 [GRCh38]
Chr17:26850929 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.928-178G>C single nucleotide variant not provided [RCV001682514] Chr17:28534153 [GRCh38]
Chr17:26861171 [GRCh37]
Chr17:17q11.2
benign
NM_001369369.1(FOXN1):c.699+156C>T single nucleotide variant not provided [RCV001551902] Chr17:28527517 [GRCh38]
Chr17:26854535 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1800G>A (p.Pro600=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001491069] Chr17:28537289 [GRCh38]
Chr17:26864307 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1886C>T (p.Thr629Met) single nucleotide variant Inborn genetic diseases [RCV003169258]|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000902966] Chr17:28537375 [GRCh38]
Chr17:26864393 [GRCh37]
Chr17:17q11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001369369.1(FOXN1):c.1472C>T (p.Ser491Leu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001470575] Chr17:28535043 [GRCh38]
Chr17:26862061 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.987C>T (p.Phe329=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000930514] Chr17:28534390 [GRCh38]
Chr17:26861408 [GRCh37]
Chr17:17q11.2
likely benign|conflicting interpretations of pathogenicity
NM_001369369.1(FOXN1):c.1401C>T (p.Pro467=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001413613] Chr17:28534972 [GRCh38]
Chr17:26861990 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.362C>T (p.Ala121Val) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001514521] Chr17:28524741 [GRCh38]
Chr17:26851759 [GRCh37]
Chr17:17q11.2
benign
NM_001369369.1(FOXN1):c.928-6C>T single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001413980] Chr17:28534325 [GRCh38]
Chr17:26861343 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1883C>A (p.Pro628His) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001242621] Chr17:28537372 [GRCh38]
Chr17:26864390 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.133G>A (p.Gly45Ser) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001054967] Chr17:28524512 [GRCh38]
Chr17:26851530 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1612G>A (p.Asp538Asn) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001067880] Chr17:28535183 [GRCh38]
Chr17:26862201 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1203C>A (p.Pro401=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001128213] Chr17:28534774 [GRCh38]
Chr17:26861792 [GRCh37]
Chr17:17q11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001369369.1(FOXN1):c.*323G>C single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001128292] Chr17:28537759 [GRCh38]
Chr17:26864777 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.*533G>A single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001128293] Chr17:28537969 [GRCh38]
Chr17:26864987 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1493C>G (p.Pro498Arg) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001216823] Chr17:28535064 [GRCh38]
Chr17:26862082 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.*13T>A single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001125267] Chr17:28537449 [GRCh38]
Chr17:26864467 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1036T>C (p.Trp346Arg) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001217898] Chr17:28534439 [GRCh38]
Chr17:26861457 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.713G>A (p.Gly238Asp) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV000933885] Chr17:28529107 [GRCh38]
Chr17:26856125 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.225C>G (p.Pro75=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001445766] Chr17:28524604 [GRCh38]
Chr17:26851622 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.-14-43T>C single nucleotide variant not provided [RCV001570480] Chr17:28523913 [GRCh38]
Chr17:26850931 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.928-197T>C single nucleotide variant not provided [RCV001652227] Chr17:28534134 [GRCh38]
Chr17:26861152 [GRCh37]
Chr17:17q11.2
benign
NM_001369369.1(FOXN1):c.-14-45A>C single nucleotide variant not provided [RCV001539920] Chr17:28523911 [GRCh38]
Chr17:26850929 [GRCh37]
Chr17:17q11.2
benign
NM_001369369.1(FOXN1):c.831-29G>T single nucleotide variant not provided [RCV001593639] Chr17:28530720 [GRCh38]
Chr17:26857738 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.831-30C>T single nucleotide variant not provided [RCV001637901] Chr17:28530719 [GRCh38]
Chr17:26857737 [GRCh37]
Chr17:17q11.2
benign
NC_000017.11:g.(?_28534311)_(28537456_?)del deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001032354] Chr17:26861329..26864474 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1327C>T (p.Leu443Phe) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001035309] Chr17:28534898 [GRCh38]
Chr17:26861916 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1752G>A (p.Gly584=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001125264] Chr17:28537241 [GRCh38]
Chr17:26864259 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1795_1796delinsCA (p.Ala599His) indel T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001047869] Chr17:28537284..28537285 [GRCh38]
Chr17:26864302..26864303 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1921A>G (p.Ser641Gly) single nucleotide variant Inborn genetic diseases [RCV003293890]|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001125266] Chr17:28537410 [GRCh38]
Chr17:26864428 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.361G>A (p.Ala121Thr) single nucleotide variant See cases [RCV002252305]|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001056770] Chr17:28524740 [GRCh38]
Chr17:26851758 [GRCh37]
Chr17:17q11.2
likely benign|uncertain significance
NM_001369369.1(FOXN1):c.933_936dup (p.Asp313fs) duplication T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001078466]|T-lymphocyte deficiency [RCV001027393] Chr17:28534334..28534335 [GRCh38]
Chr17:26861352..26861353 [GRCh37]
Chr17:17q11.2
pathogenic
NM_001369369.1(FOXN1):c.1089_1103del (p.Trp363_Pro368delinsCys) deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001078467]|T-lymphocyte deficiency [RCV001027394] Chr17:28534492..28534506 [GRCh38]
Chr17:26861510..26861524 [GRCh37]
Chr17:17q11.2
pathogenic
NM_001369369.1(FOXN1):c.*66C>T single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001126241] Chr17:28537502 [GRCh38]
Chr17:26864520 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1727C>T (p.Pro576Leu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001122481] Chr17:28537216 [GRCh38]
Chr17:26864234 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1075G>A (p.Glu359Lys) single nucleotide variant not provided [RCV001171931] Chr17:28534478 [GRCh38]
Chr17:26861496 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.64G>A (p.Glu22Lys) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001122372] Chr17:28524033 [GRCh38]
Chr17:26851051 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.124-14C>T single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001122375] Chr17:28524489 [GRCh38]
Chr17:26851507 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.147G>A (p.Ser49=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001122376] Chr17:28524526 [GRCh38]
Chr17:26851544 [GRCh37]
Chr17:17q11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001369369.1(FOXN1):c.1205del (p.Pro402fs) deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001228694] Chr17:28534772 [GRCh38]
Chr17:26861790 [GRCh37]
Chr17:17q11.2
pathogenic|uncertain significance
NM_001369369.1(FOXN1):c.906G>A (p.Thr302=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001044953] Chr17:28530824 [GRCh38]
Chr17:26857842 [GRCh37]
Chr17:17q11.2
likely benign|uncertain significance
NM_001369369.1(FOXN1):c.517C>T (p.Pro173Ser) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001046522] Chr17:28524896 [GRCh38]
Chr17:26851914 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.189del (p.Pro65fs) deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001059519] Chr17:28524568 [GRCh38]
Chr17:26851586 [GRCh37]
Chr17:17q11.2
pathogenic
NM_001369369.1(FOXN1):c.56T>C (p.Leu19Pro) single nucleotide variant Inborn genetic diseases [RCV002553895]|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001060851] Chr17:28524025 [GRCh38]
Chr17:26851043 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1366_1369dup (p.His457fs) duplication T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001068832] Chr17:28534935..28534936 [GRCh38]
Chr17:26861953..26861954 [GRCh37]
Chr17:17q11.2
pathogenic
NM_001369369.1(FOXN1):c.700-132G>A single nucleotide variant not provided [RCV001690561] Chr17:28528962 [GRCh38]
Chr17:26855980 [GRCh37]
Chr17:17q11.2
benign
NM_001369369.1(FOXN1):c.700-114G>A single nucleotide variant not provided [RCV001537198] Chr17:28528980 [GRCh38]
Chr17:26855998 [GRCh37]
Chr17:17q11.2
benign
NM_001369369.1(FOXN1):c.490del (p.Asp164fs) deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001041286] Chr17:28524868 [GRCh38]
Chr17:26851886 [GRCh37]
Chr17:17q11.2
pathogenic
NM_001369369.1(FOXN1):c.527C>T (p.Ser176Leu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001048989] Chr17:28524906 [GRCh38]
Chr17:26851924 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.958C>T (p.Arg320Trp) single nucleotide variant T-CELL LYMPHOPENIA, INFANTILE, WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT [RCV001027391]|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001027390] Chr17:28534361 [GRCh38]
Chr17:26861379 [GRCh37]
Chr17:17q11.2
pathogenic|uncertain significance
NM_001369369.1(FOXN1):c.562del (p.Ser188fs) deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001027392] Chr17:28524941 [GRCh38]
Chr17:26851959 [GRCh37]
Chr17:17q11.2
pathogenic
NM_001369369.1(FOXN1):c.67C>A (p.Arg23Ser) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001062478] Chr17:28524036 [GRCh38]
Chr17:26851054 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1298T>G (p.Ile433Ser) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001236769] Chr17:28534869 [GRCh38]
Chr17:26861887 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.689C>T (p.Pro230Leu) single nucleotide variant Inborn genetic diseases [RCV002554487]|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001066298] Chr17:28527351 [GRCh38]
Chr17:26854369 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.554C>T (p.Pro185Leu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001069921] Chr17:28524933 [GRCh38]
Chr17:26851951 [GRCh37]
Chr17:17q11.2
uncertain significance
GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3 copy number gain not provided [RCV001006886] Chr17:25274363..28450707 [GRCh37]
Chr17:17q11.1-11.2
pathogenic
NM_001369369.1(FOXN1):c.212C>T (p.Ala71Val) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001236124] Chr17:28524591 [GRCh38]
Chr17:26851609 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1351T>C (p.Tyr451His) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001206062] Chr17:28534922 [GRCh38]
Chr17:26861940 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.42G>A (p.Pro14=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001122371] Chr17:28524011 [GRCh38]
Chr17:26851029 [GRCh37]
Chr17:17q11.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001369369.1(FOXN1):c.1651G>T (p.Asp551Tyr) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001122480] Chr17:28537140 [GRCh38]
Chr17:26864158 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1376C>A (p.Ser459Ter) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001038501] Chr17:28534947 [GRCh38]
Chr17:26861965 [GRCh37]
Chr17:17q11.2
pathogenic
NM_001369369.1(FOXN1):c.505_516del (p.Glu169_Leu172del) deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001046524] Chr17:28524884..28524895 [GRCh38]
Chr17:26851902..26851913 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.*20G>C single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001126239] Chr17:28537456 [GRCh38]
Chr17:26864474 [GRCh37]
Chr17:17q11.2
benign
NM_001369369.1(FOXN1):c.50C>G (p.Thr17Ser) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001058559] Chr17:28524019 [GRCh38]
Chr17:26851037 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1850_1854del (p.Tyr617fs) deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001063946] Chr17:28537335..28537339 [GRCh38]
Chr17:26864353..26864357 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1418del (p.Pro473fs) deletion T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [RCV001027397] Chr17:28534987 [GRCh38]
Chr17:26862005 [GRCh37]
Chr17:17q11.2
pathogenic
NM_001369369.1(FOXN1):c.141C>A (p.Ser47Arg) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001070325] Chr17:28524520 [GRCh38]
Chr17:26851538 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.-14-28A>G single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001122370] Chr17:28523928 [GRCh38]
Chr17:26850946 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.373C>A (p.Pro125Thr) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001125157] Chr17:28524752 [GRCh38]
Chr17:26851770 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.961C>T (p.His321Tyr) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001232246] Chr17:28534364 [GRCh38]
Chr17:26861382 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1115G>A (p.Arg372His) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001304053] Chr17:28534518 [GRCh38]
Chr17:26861536 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.466G>A (p.Glu156Lys) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001319354] Chr17:28524845 [GRCh38]
Chr17:26851863 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1243C>T (p.Pro415Ser) single nucleotide variant Inborn genetic diseases [RCV002546078]|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001320604] Chr17:28534814 [GRCh38]
Chr17:26861832 [GRCh37]
Chr17:17q11.2
uncertain significance
NC_000017.10:g.(?_26861329)_(26864474_?)del deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001319588] Chr17:26861329..26864474 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1804A>G (p.Ser602Gly) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001301355] Chr17:28537293 [GRCh38]
Chr17:26864311 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1466A>G (p.Gln489Arg) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001303436] Chr17:28535037 [GRCh38]
Chr17:26862055 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1309A>G (p.Asn437Asp) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001313457] Chr17:28534880 [GRCh38]
Chr17:26861898 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1369C>T (p.His457Tyr) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001326331] Chr17:28534940 [GRCh38]
Chr17:26861958 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.700-7T>C single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001414275] Chr17:28529087 [GRCh38]
Chr17:26856105 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1877C>T (p.Thr626Met) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001363123] Chr17:28537366 [GRCh38]
Chr17:26864384 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1428C>T (p.Asp476=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001391801] Chr17:28534999 [GRCh38]
Chr17:26862017 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1121G>A (p.Ser374Asn) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001368281] Chr17:28534524 [GRCh38]
Chr17:26861542 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1320G>A (p.Gln440=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001422665] Chr17:28534891 [GRCh38]
Chr17:26861909 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1855G>C (p.Ala619Pro) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001327482]|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002499647] Chr17:28537344 [GRCh38]
Chr17:26864362 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1917C>T (p.Ser639=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001421768] Chr17:28537406 [GRCh38]
Chr17:26864424 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.716G>A (p.Gly239Asp) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001304031] Chr17:28529110 [GRCh38]
Chr17:26856128 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1634T>C (p.Leu545Pro) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001294797] Chr17:28537123 [GRCh38]
Chr17:26864141 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.723C>G (p.Tyr241Ter) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001383306] Chr17:28529117 [GRCh38]
Chr17:26856135 [GRCh37]
Chr17:17q11.2
pathogenic
NM_001369369.1(FOXN1):c.8C>T (p.Ser3Leu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001315447] Chr17:28523977 [GRCh38]
Chr17:26850995 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.296A>G (p.Tyr99Cys) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001296865] Chr17:28524675 [GRCh38]
Chr17:26851693 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.729_737del (p.Ile243_Leu246delinsMet) deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001364743] Chr17:28529122..28529130 [GRCh38]
Chr17:26856140..26856148 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.685C>T (p.Pro229Ser) single nucleotide variant Inborn genetic diseases [RCV002546948]|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001342080] Chr17:28527347 [GRCh38]
Chr17:26854365 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.943T>C (p.Trp315Arg) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001301557] Chr17:28534346 [GRCh38]
Chr17:26861364 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1286C>T (p.Ala429Val) single nucleotide variant Inborn genetic diseases [RCV002543798]|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001320288] Chr17:28534857 [GRCh38]
Chr17:26861875 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1313C>A (p.Pro438His) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001346015] Chr17:28534884 [GRCh38]
Chr17:26861902 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.253G>A (p.Gly85Ser) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001322080] Chr17:28524632 [GRCh38]
Chr17:26851650 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.873C>G (p.Ser291Arg) single nucleotide variant Inborn genetic diseases [RCV002543849]|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001323223] Chr17:28530791 [GRCh38]
Chr17:26857809 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.817A>G (p.Ile273Val) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001305843] Chr17:28529211 [GRCh38]
Chr17:26856229 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1522G>A (p.Glu508Lys) single nucleotide variant Inborn genetic diseases [RCV002547442]|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001345466] Chr17:28535093 [GRCh38]
Chr17:26862111 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1887G>A (p.Thr629=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001370841] Chr17:28537376 [GRCh38]
Chr17:26864394 [GRCh37]
Chr17:17q11.2
likely benign|uncertain significance
NM_001369369.1(FOXN1):c.1671C>A (p.Asp557Glu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001299666] Chr17:28537160 [GRCh38]
Chr17:26864178 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.988G>A (p.Glu330Lys) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001344507]|not provided [RCV003405578] Chr17:28534391 [GRCh38]
Chr17:26861409 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1866G>T (p.Glu622Asp) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001295764] Chr17:28537355 [GRCh38]
Chr17:26864373 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1438G>C (p.Glu480Gln) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001352270] Chr17:28535009 [GRCh38]
Chr17:26862027 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1471T>C (p.Ser491Pro) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001305013] Chr17:28535042 [GRCh38]
Chr17:26862060 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.492C>T (p.Asp164=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001413064] Chr17:28524871 [GRCh38]
Chr17:26851889 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.936C>T (p.Pro312=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001435508] Chr17:28534339 [GRCh38]
Chr17:26861357 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1135+10G>A single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001473346] Chr17:28534548 [GRCh38]
Chr17:26861566 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1551C>T (p.Asp517=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001465235] Chr17:28535122 [GRCh38]
Chr17:26862140 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1740C>T (p.Cys580=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001461298] Chr17:28537229 [GRCh38]
Chr17:26864247 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.831-5T>C single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001484913] Chr17:28530744 [GRCh38]
Chr17:26857762 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.927+8C>T single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001486782] Chr17:28530853 [GRCh38]
Chr17:26857871 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1664C>T (p.Ala555Val) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001522504] Chr17:28537153 [GRCh38]
Chr17:26864171 [GRCh37]
Chr17:17q11.2
benign
NM_001369369.1(FOXN1):c.1135+20G>A single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001460412] Chr17:28534558 [GRCh38]
Chr17:26861576 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.589-9T>C single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001397994] Chr17:28527242 [GRCh38]
Chr17:26854260 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.183C>T (p.Pro61=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001438097] Chr17:28524562 [GRCh38]
Chr17:26851580 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1656T>C (p.Asp552=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001406943] Chr17:28537145 [GRCh38]
Chr17:26864163 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1327del (p.Met444fs) deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001378326] Chr17:28534898 [GRCh38]
Chr17:26861916 [GRCh37]
Chr17:17q11.2
pathogenic|likely pathogenic
NM_001369369.1(FOXN1):c.823del (p.Ser275fs) deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001389564] Chr17:28529216 [GRCh38]
Chr17:26856234 [GRCh37]
Chr17:17q11.2
pathogenic
NM_001369369.1(FOXN1):c.1316del (p.Leu439fs) deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001387604] Chr17:28534887 [GRCh38]
Chr17:26861905 [GRCh37]
Chr17:17q11.2
pathogenic
NM_001369369.1(FOXN1):c.93G>A (p.Pro31=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001428043] Chr17:28524062 [GRCh38]
Chr17:26851080 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.114C>T (p.Ala38=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001407766] Chr17:28524083 [GRCh38]
Chr17:26851101 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.705G>A (p.Ser235=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001437689] Chr17:28529099 [GRCh38]
Chr17:26856117 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1938C>T (p.Ala646=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001405847] Chr17:28537427 [GRCh38]
Chr17:26864445 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.702C>T (p.Tyr234=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001439240] Chr17:28529096 [GRCh38]
Chr17:26856114 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1434C>T (p.His478=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001502095] Chr17:28535005 [GRCh38]
Chr17:26862023 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1059C>T (p.Ile353=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001472630] Chr17:28534462 [GRCh38]
Chr17:26861480 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.700-141T>G single nucleotide variant not provided [RCV001709321] Chr17:28528953 [GRCh38]
Chr17:26855971 [GRCh37]
Chr17:17q11.2
benign
NM_001369369.1(FOXN1):c.-14-163TC[12] microsatellite not provided [RCV001675546] Chr17:28523793..28523808 [GRCh38]
Chr17:26850811..26850826 [GRCh37]
Chr17:17q11.2
benign
NM_001369369.1(FOXN1):c.1628-9C>T single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001469029] Chr17:28537108 [GRCh38]
Chr17:26864126 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1698G>A (p.Pro566=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001490987] Chr17:28537187 [GRCh38]
Chr17:26864205 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1200G>A (p.Pro400=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001480130] Chr17:28534771 [GRCh38]
Chr17:26861789 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.150A>T (p.Ser50=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001496898] Chr17:28524529 [GRCh38]
Chr17:26851547 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1135+62A>G single nucleotide variant not provided [RCV001640947] Chr17:28534600 [GRCh38]
Chr17:26861618 [GRCh37]
Chr17:17q11.2
benign
NM_001369369.1(FOXN1):c.675C>T (p.Cys225=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001477289] Chr17:28527337 [GRCh38]
Chr17:26854355 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.928-280C>G single nucleotide variant not provided [RCV001685302] Chr17:28534051 [GRCh38]
Chr17:26861069 [GRCh37]
Chr17:17q11.2
benign
NM_001369369.1(FOXN1):c.375G>A (p.Pro125=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001481470] Chr17:28524754 [GRCh38]
Chr17:26851772 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.561C>G (p.Pro187=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001415592] Chr17:28524940 [GRCh38]
Chr17:26851958 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.786C>T (p.Thr262=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001417909] Chr17:28529180 [GRCh38]
Chr17:26856198 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1932C>T (p.Pro644=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001480479]|not provided [RCV001701170] Chr17:28537421 [GRCh38]
Chr17:26864439 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.162C>T (p.Asp54=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001511934] Chr17:28524541 [GRCh38]
Chr17:26851559 [GRCh37]
Chr17:17q11.2
benign
NM_001369369.1(FOXN1):c.411G>A (p.Glu137=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001479353]|not provided [RCV003426141] Chr17:28524790 [GRCh38]
Chr17:26851808 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.830+1G>T single nucleotide variant not provided [RCV001727026] Chr17:28529225 [GRCh38]
Chr17:26856243 [GRCh37]
Chr17:17q11.2
likely pathogenic
NM_001369369.1(FOXN1):c.699+22C>A single nucleotide variant not provided [RCV001779790] Chr17:28527383 [GRCh38]
Chr17:26854401 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.184T>A (p.Ser62Thr) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001929549] Chr17:28524563 [GRCh38]
Chr17:26851581 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.332G>A (p.Ser111Asn) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001871249] Chr17:28524711 [GRCh38]
Chr17:26851729 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.885C>T (p.Ser295=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001969915] Chr17:28530803 [GRCh38]
Chr17:26857821 [GRCh37]
Chr17:17q11.2
likely benign|uncertain significance
NM_001369369.1(FOXN1):c.1900C>T (p.Pro634Ser) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001928273] Chr17:28537389 [GRCh38]
Chr17:26864407 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1549G>A (p.Asp517Asn) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001895772] Chr17:28535120 [GRCh38]
Chr17:26862138 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.667A>C (p.Met223Leu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001929253] Chr17:28527329 [GRCh38]
Chr17:26854347 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1907T>C (p.Val636Ala) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002006908] Chr17:28537396 [GRCh38]
Chr17:26864414 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.707C>A (p.Pro236Gln) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001971146] Chr17:28529101 [GRCh38]
Chr17:26856119 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.139A>G (p.Ser47Gly) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002008532] Chr17:28524518 [GRCh38]
Chr17:26851536 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.427G>A (p.Ala143Thr) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002025539] Chr17:28524806 [GRCh38]
Chr17:26851824 [GRCh37]
Chr17:17q11.2
uncertain significance
GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232) copy number gain not specified [RCV002052591] Chr17:21690653..28281232 [GRCh37]
Chr17:17p11.2-q11.2
pathogenic
NM_001369369.1(FOXN1):c.1897G>A (p.Gly633Ser) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001892825] Chr17:28537386 [GRCh38]
Chr17:26864404 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.656C>G (p.Pro219Arg) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001908003] Chr17:28527318 [GRCh38]
Chr17:26854336 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.740G>T (p.Gly247Val) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002040816] Chr17:28529134 [GRCh38]
Chr17:26856152 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.723C>A (p.Tyr241Ter) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001824253] Chr17:28529117 [GRCh38]
Chr17:26856135 [GRCh37]
Chr17:17q11.2
likely pathogenic
NM_001369369.1(FOXN1):c.44G>A (p.Gly15Asp) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002004395] Chr17:28524013 [GRCh38]
Chr17:26851031 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.415G>A (p.Glu139Lys) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001928633] Chr17:28524794 [GRCh38]
Chr17:26851812 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.100C>G (p.Pro34Ala) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001966977] Chr17:28524069 [GRCh38]
Chr17:26851087 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1474C>A (p.Pro492Thr) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001928380] Chr17:28535045 [GRCh38]
Chr17:26862063 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1780G>C (p.Ala594Pro) single nucleotide variant Inborn genetic diseases [RCV002562915]|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001982825] Chr17:28537269 [GRCh38]
Chr17:26864287 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.928-2A>G single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002041128] Chr17:28534329 [GRCh38]
Chr17:26861347 [GRCh37]
Chr17:17q11.2
likely pathogenic
NM_001369369.1(FOXN1):c.1580C>T (p.Thr527Ile) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002022235] Chr17:28535151 [GRCh38]
Chr17:26862169 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.374C>T (p.Pro125Leu) single nucleotide variant Inborn genetic diseases [RCV003339819]|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001945074] Chr17:28524753 [GRCh38]
Chr17:26851771 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1627+6C>T single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002002864] Chr17:28535204 [GRCh38]
Chr17:26862222 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1355G>A (p.Gly452Glu) single nucleotide variant Inborn genetic diseases [RCV002548890]|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002021488] Chr17:28534926 [GRCh38]
Chr17:26861944 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1262C>T (p.Pro421Leu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002020604] Chr17:28534833 [GRCh38]
Chr17:26861851 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1400C>T (p.Pro467Leu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002034375] Chr17:28534971 [GRCh38]
Chr17:26861989 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.649C>A (p.Gln217Lys) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002000451] Chr17:28527311 [GRCh38]
Chr17:26854329 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.690dup (p.Phe231fs) duplication T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001941989] Chr17:28527346..28527347 [GRCh38]
Chr17:26854364..26854365 [GRCh37]
Chr17:17q11.2
pathogenic
NM_001369369.1(FOXN1):c.937G>A (p.Asp313Asn) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002045898] Chr17:28534340 [GRCh38]
Chr17:26861358 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.182C>A (p.Pro61His) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001887927] Chr17:28524561 [GRCh38]
Chr17:26851579 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1817G>A (p.Gly606Glu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002018922] Chr17:28537306 [GRCh38]
Chr17:26864324 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1459_1460del (p.Thr487fs) deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001972744] Chr17:28535029..28535030 [GRCh38]
Chr17:26862047..26862048 [GRCh37]
Chr17:17q11.2
pathogenic
NM_001369369.1(FOXN1):c.1933G>A (p.Val645Met) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001867274] Chr17:28537422 [GRCh38]
Chr17:26864440 [GRCh37]
Chr17:17q11.2
uncertain significance
NC_000017.10:g.(?_26861345)_(26864490_?)del deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001972824] Chr17:26861345..26864490 [GRCh37]
Chr17:17q11.2
pathogenic|uncertain significance
NM_001369369.1(FOXN1):c.401T>A (p.Val134Asp) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001993939] Chr17:28524780 [GRCh38]
Chr17:26851798 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1741T>A (p.Phe581Ile) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001973029] Chr17:28537230 [GRCh38]
Chr17:26864248 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1864G>A (p.Glu622Lys) single nucleotide variant Inborn genetic diseases [RCV003348678]|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002012054] Chr17:28537353 [GRCh38]
Chr17:26864371 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1730C>G (p.Pro577Arg) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001918432] Chr17:28537219 [GRCh38]
Chr17:26864237 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.455del (p.Pro152fs) deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001865072] Chr17:28524831 [GRCh38]
Chr17:26851849 [GRCh37]
Chr17:17q11.2
pathogenic
NM_001369369.1(FOXN1):c.1403C>T (p.Pro468Leu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001933333] Chr17:28534974 [GRCh38]
Chr17:26861992 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1565A>G (p.Asp522Gly) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002014449] Chr17:28535136 [GRCh38]
Chr17:26862154 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1424C>T (p.Pro475Leu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001938515] Chr17:28534995 [GRCh38]
Chr17:26862013 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.446T>C (p.Phe149Ser) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001902153] Chr17:28524825 [GRCh38]
Chr17:26851843 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1039G>A (p.Ala347Thr) single nucleotide variant Inborn genetic diseases [RCV002557598]|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001935467] Chr17:28534442 [GRCh38]
Chr17:26861460 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1628G>A (p.Gly543Glu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002027456] Chr17:28537117 [GRCh38]
Chr17:26864135 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.171A>G (p.Pro57=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001958732] Chr17:28524550 [GRCh38]
Chr17:26851568 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.452C>A (p.Thr151Asn) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002047496] Chr17:28524831 [GRCh38]
Chr17:26851849 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.92C>A (p.Pro31Gln) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001999064] Chr17:28524061 [GRCh38]
Chr17:26851079 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.64G>T (p.Glu22Ter) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001938176] Chr17:28524033 [GRCh38]
Chr17:26851051 [GRCh37]
Chr17:17q11.2
pathogenic
NM_001369369.1(FOXN1):c.971C>T (p.Ser324Phe) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001882994] Chr17:28534374 [GRCh38]
Chr17:26861392 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.689C>G (p.Pro230Arg) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001901348] Chr17:28527351 [GRCh38]
Chr17:26854369 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.814C>A (p.Pro272Thr) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002019222] Chr17:28529208 [GRCh38]
Chr17:26856226 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1594A>C (p.Ile532Leu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001996882] Chr17:28535165 [GRCh38]
Chr17:26862183 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1711A>G (p.Met571Val) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001938846] Chr17:28537200 [GRCh38]
Chr17:26864218 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1720C>G (p.Pro574Ala) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001998887] Chr17:28537209 [GRCh38]
Chr17:26864227 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.689C>A (p.Pro230His) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002015019] Chr17:28527351 [GRCh38]
Chr17:26854369 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.475G>A (p.Glu159Lys) single nucleotide variant Inborn genetic diseases [RCV002558445]|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001919413]|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002484563] Chr17:28524854 [GRCh38]
Chr17:26851872 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1304G>A (p.Gly435Asp) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001903953] Chr17:28534875 [GRCh38]
Chr17:26861893 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1199C>T (p.Pro400Leu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002031657] Chr17:28534770 [GRCh38]
Chr17:26861788 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1010del (p.Gly337fs) deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001951067] Chr17:28534412 [GRCh38]
Chr17:26861430 [GRCh37]
Chr17:17q11.2
pathogenic
NM_001369369.1(FOXN1):c.193C>T (p.Pro65Ser) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002031887] Chr17:28524572 [GRCh38]
Chr17:26851590 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.400G>A (p.Val134Ile) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV001922839] Chr17:28524779 [GRCh38]
Chr17:26851797 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.997G>A (p.Glu333Lys) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002015800] Chr17:28534400 [GRCh38]
Chr17:26861418 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.831-14T>C single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002166170] Chr17:28530735 [GRCh38]
Chr17:26857753 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1135+18A>G single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002110204] Chr17:28534556 [GRCh38]
Chr17:26861574 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1632C>T (p.Asn544=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002148982] Chr17:28537121 [GRCh38]
Chr17:26864139 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1174C>T (p.Leu392=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002124529] Chr17:28534745 [GRCh38]
Chr17:26861763 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.327A>T (p.Ala109=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002091570] Chr17:28524706 [GRCh38]
Chr17:26851724 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.124-17A>T single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002147785] Chr17:28524486 [GRCh38]
Chr17:26851504 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1797C>A (p.Ala599=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002096922] Chr17:28537286 [GRCh38]
Chr17:26864304 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.474C>T (p.Phe158=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002130731] Chr17:28524853 [GRCh38]
Chr17:26851871 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.939T>C (p.Asp313=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002095269] Chr17:28534342 [GRCh38]
Chr17:26861360 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1875C>A (p.Pro625=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002173513] Chr17:28537364 [GRCh38]
Chr17:26864382 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.55C>T (p.Leu19=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002096573] Chr17:28524024 [GRCh38]
Chr17:26851042 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1275A>G (p.Ser425=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002196547] Chr17:28534846 [GRCh38]
Chr17:26861864 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1353T>C (p.Tyr451=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002133346] Chr17:28534924 [GRCh38]
Chr17:26861942 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1605A>T (p.Ser535=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002194228] Chr17:28535176 [GRCh38]
Chr17:26862194 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1821A>C (p.Ala607=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002112922] Chr17:28537310 [GRCh38]
Chr17:26864328 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.735C>T (p.Tyr245=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002096274] Chr17:28529129 [GRCh38]
Chr17:26856147 [GRCh37]
Chr17:17q11.2
benign
NM_001369369.1(FOXN1):c.1191G>C (p.Leu397=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002108593] Chr17:28534762 [GRCh38]
Chr17:26861780 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.348C>G (p.Leu116=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002210451] Chr17:28524727 [GRCh38]
Chr17:26851745 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1281C>T (p.His427=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002101541] Chr17:28534852 [GRCh38]
Chr17:26861870 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.915T>C (p.Phe305=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002157775] Chr17:28530833 [GRCh38]
Chr17:26857851 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1578C>G (p.Gly526=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002202932] Chr17:28535149 [GRCh38]
Chr17:26862167 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1627+16G>C single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002142634] Chr17:28535214 [GRCh38]
Chr17:26862232 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.124-4C>G single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002140814] Chr17:28524499 [GRCh38]
Chr17:26851517 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.570G>A (p.Glu190=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002143944] Chr17:28524949 [GRCh38]
Chr17:26851967 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.589-10C>G single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002155615] Chr17:28527241 [GRCh38]
Chr17:26854259 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1473G>A (p.Ser491=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002143992] Chr17:28535044 [GRCh38]
Chr17:26862062 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.657C>T (p.Pro219=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002218323] Chr17:28527319 [GRCh38]
Chr17:26854337 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1812C>T (p.Gly604=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002180371] Chr17:28537301 [GRCh38]
Chr17:26864319 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.96C>A (p.Gly32=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002143039] Chr17:28524065 [GRCh38]
Chr17:26851083 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.633T>G (p.Ala211=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002158878] Chr17:28527295 [GRCh38]
Chr17:26854313 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1425G>T (p.Pro475=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002201342] Chr17:28534996 [GRCh38]
Chr17:26862014 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.81C>T (p.Leu27=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002160427] Chr17:28524050 [GRCh38]
Chr17:26851068 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.39G>A (p.Leu13=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002136486] Chr17:28524008 [GRCh38]
Chr17:26851026 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.279C>A (p.Leu93=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002123904] Chr17:28524658 [GRCh38]
Chr17:26851676 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.553C>T (p.Pro185Ser) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003110378] Chr17:28524932 [GRCh38]
Chr17:26851950 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.927+6C>T single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003110733] Chr17:28530851 [GRCh38]
Chr17:26857869 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.17C>T (p.Pro6Leu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003111932] Chr17:28523986 [GRCh38]
Chr17:26851004 [GRCh37]
Chr17:17q11.2
uncertain significance
NC_000017.10:g.(?_26684694)_(27581367_?)dup duplication not provided [RCV003116316] Chr17:26684694..27581367 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.484C>T (p.Pro162Ser) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003114909] Chr17:28524863 [GRCh38]
Chr17:26851881 [GRCh37]
Chr17:17q11.2
uncertain significance
NC_000017.10:g.(?_26861752)_(26869835_?)del deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003113289] Chr17:26861752..26869835 [GRCh37]
Chr17:17q11.2
pathogenic
NC_000017.10:g.(?_26684694)_(29701173_?)dup duplication not provided [RCV003123018] Chr17:26684694..29701173 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1106T>C (p.Ile369Thr) single nucleotide variant not specified [RCV002266373] Chr17:28534509 [GRCh38]
Chr17:26861527 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.-14-163TC[22] microsatellite not provided [RCV002285592] Chr17:28523792..28523793 [GRCh38]
Chr17:26850810..26850811 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1382G>T (p.Gly461Val) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002297396] Chr17:28534953 [GRCh38]
Chr17:26861971 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.699+184T>G single nucleotide variant not provided [RCV002285987] Chr17:28527545 [GRCh38]
Chr17:26854563 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.664C>T (p.His222Tyr) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002302939] Chr17:28527326 [GRCh38]
Chr17:26854344 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.890T>G (p.Ile297Ser) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002304332] Chr17:28530808 [GRCh38]
Chr17:26857826 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.629G>C (p.Gly210Ala) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002305216] Chr17:28527291 [GRCh38]
Chr17:26854309 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.932C>T (p.Ala311Val) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002298190] Chr17:28534335 [GRCh38]
Chr17:26861353 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.73G>A (p.Gly25Arg) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002294916] Chr17:28524042 [GRCh38]
Chr17:26851060 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1404G>A (p.Pro468=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003073649] Chr17:28534975 [GRCh38]
Chr17:26861993 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.123+8C>A single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002991487] Chr17:28524100 [GRCh38]
Chr17:26851118 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1263A>C (p.Pro421=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002816060] Chr17:28534834 [GRCh38]
Chr17:26861852 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.80T>C (p.Leu27Pro) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002838569] Chr17:28524049 [GRCh38]
Chr17:26851067 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.505G>A (p.Glu169Lys) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002994446]|not specified [RCV003155500] Chr17:28524884 [GRCh38]
Chr17:26851902 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1385T>C (p.Leu462Pro) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002795091] Chr17:28534956 [GRCh38]
Chr17:26861974 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.360C>T (p.His120=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002686390] Chr17:28524739 [GRCh38]
Chr17:26851757 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.302GCTTTG[3] (p.Phe104_Glu105insGlyPhe) microsatellite T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002904179] Chr17:28524678..28524679 [GRCh38]
Chr17:26851696..26851697 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.830+10C>T single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002740287] Chr17:28529234 [GRCh38]
Chr17:26856252 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.699+10G>A single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002592215] Chr17:28527371 [GRCh38]
Chr17:26854389 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.589-10C>T single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002780866] Chr17:28527241 [GRCh38]
Chr17:26854259 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1387G>A (p.Ala463Thr) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003081202] Chr17:28534958 [GRCh38]
Chr17:26861976 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.213G>A (p.Ala71=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002640484] Chr17:28524592 [GRCh38]
Chr17:26851610 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.31G>A (p.Val11Ile) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002640209] Chr17:28524000 [GRCh38]
Chr17:26851018 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1432C>T (p.His478Tyr) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003002404] Chr17:28535003 [GRCh38]
Chr17:26862021 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1021del (p.Arg341fs) deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003017934] Chr17:28534422 [GRCh38]
Chr17:26861440 [GRCh37]
Chr17:17q11.2
pathogenic
NM_001369369.1(FOXN1):c.1775G>C (p.Ser592Thr) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003053853] Chr17:28537264 [GRCh38]
Chr17:26864282 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1140G>C (p.Glu380Asp) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003000073] Chr17:28534711 [GRCh38]
Chr17:26861729 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.126G>A (p.Lys42=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002866639] Chr17:28524505 [GRCh38]
Chr17:26851523 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.465G>A (p.Leu155=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002847271] Chr17:28524844 [GRCh38]
Chr17:26851862 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.513C>T (p.Phe171=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002886126] Chr17:28524892 [GRCh38]
Chr17:26851910 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1421A>G (p.Gln474Arg) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002780590] Chr17:28534992 [GRCh38]
Chr17:26862010 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1022G>A (p.Arg341His) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003078284] Chr17:28534425 [GRCh38]
Chr17:26861443 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.91C>T (p.Pro31Ser) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002637029] Chr17:28524060 [GRCh38]
Chr17:26851078 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1797C>T (p.Ala599=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002795311] Chr17:28537286 [GRCh38]
Chr17:26864304 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1621T>C (p.Phe541Leu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002948812] Chr17:28535192 [GRCh38]
Chr17:26862210 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.589-16C>T single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003037857] Chr17:28527235 [GRCh38]
Chr17:26854253 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.494T>C (p.Val165Ala) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002780771] Chr17:28524873 [GRCh38]
Chr17:26851891 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.340C>T (p.Arg114Ter) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003000196] Chr17:28524719 [GRCh38]
Chr17:26851737 [GRCh37]
Chr17:17q11.2
pathogenic
NM_001369369.1(FOXN1):c.1879C>A (p.Pro627Thr) single nucleotide variant Inborn genetic diseases [RCV002912180] Chr17:28537368 [GRCh38]
Chr17:26864386 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1814C>T (p.Ser605Phe) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002736629] Chr17:28537303 [GRCh38]
Chr17:26864321 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.493G>A (p.Val165Met) single nucleotide variant Inborn genetic diseases [RCV002913624]|T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002913625] Chr17:28524872 [GRCh38]
Chr17:26851890 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.40C>T (p.Pro14Ser) single nucleotide variant Inborn genetic diseases [RCV002869140] Chr17:28524009 [GRCh38]
Chr17:26851027 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.627T>C (p.Ser209=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002975768] Chr17:28527289 [GRCh38]
Chr17:26854307 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.57G>T (p.Leu19=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003054214] Chr17:28524026 [GRCh38]
Chr17:26851044 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1248A>G (p.Pro416=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002569526] Chr17:28534819 [GRCh38]
Chr17:26861837 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1253G>A (p.Gly418Asp) single nucleotide variant Inborn genetic diseases [RCV002739428] Chr17:28534824 [GRCh38]
Chr17:26861842 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.700-16C>T single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002705426] Chr17:28529078 [GRCh38]
Chr17:26856096 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.124-5C>T single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003084117] Chr17:28524498 [GRCh38]
Chr17:26851516 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1295C>A (p.Pro432His) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002918430] Chr17:28534866 [GRCh38]
Chr17:26861884 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1627+12G>A single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002805437] Chr17:28535210 [GRCh38]
Chr17:26862228 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.589-4G>A single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002625948] Chr17:28527247 [GRCh38]
Chr17:26854265 [GRCh37]
Chr17:17q11.2
likely benign|uncertain significance
NM_001369369.1(FOXN1):c.772C>A (p.Pro258Thr) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002958174] Chr17:28529166 [GRCh38]
Chr17:26856184 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.498G>A (p.Ala166=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002745564] Chr17:28524877 [GRCh38]
Chr17:26851895 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.582A>C (p.Gln194His) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003008115] Chr17:28524961 [GRCh38]
Chr17:26851979 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1138G>A (p.Glu380Lys) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002801429] Chr17:28534709 [GRCh38]
Chr17:26861727 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.789T>A (p.Asp263Glu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002765380] Chr17:28529183 [GRCh38]
Chr17:26856201 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1314C>T (p.Pro438=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002642318] Chr17:28534885 [GRCh38]
Chr17:26861903 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.203C>G (p.Pro68Arg) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002741697] Chr17:28524582 [GRCh38]
Chr17:26851600 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.150A>G (p.Ser50=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002894511] Chr17:28524529 [GRCh38]
Chr17:26851547 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.67C>T (p.Arg23Cys) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002626512] Chr17:28524036 [GRCh38]
Chr17:26851054 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.166C>A (p.Pro56Thr) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002623440] Chr17:28524545 [GRCh38]
Chr17:26851563 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1049C>T (p.Pro350Leu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002745540] Chr17:28534452 [GRCh38]
Chr17:26861470 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1136-13T>C single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002871859] Chr17:28534694 [GRCh38]
Chr17:26861712 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.638T>C (p.Met213Thr) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002790919] Chr17:28527300 [GRCh38]
Chr17:26854318 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.873C>T (p.Ser291=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003083645] Chr17:28530791 [GRCh38]
Chr17:26857809 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1880C>T (p.Pro627Leu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002800998] Chr17:28537369 [GRCh38]
Chr17:26864387 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1234C>G (p.Pro412Ala) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003040238] Chr17:28534805 [GRCh38]
Chr17:26861823 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.290A>G (p.Asp97Gly) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003049221] Chr17:28524669 [GRCh38]
Chr17:26851687 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.186A>G (p.Ser62=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003065836] Chr17:28524565 [GRCh38]
Chr17:26851583 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.259G>A (p.Gly87Ser) single nucleotide variant Inborn genetic diseases [RCV002651971] Chr17:28524638 [GRCh38]
Chr17:26851656 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.973C>T (p.Leu325Phe) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002834898] Chr17:28534376 [GRCh38]
Chr17:26861394 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1245C>T (p.Pro415=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002600467] Chr17:28534816 [GRCh38]
Chr17:26861834 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.588+11G>A single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002579738] Chr17:28524978 [GRCh38]
Chr17:26851996 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1135+16C>T single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002716806] Chr17:28534554 [GRCh38]
Chr17:26861572 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.124-16_124-15delinsTA indel T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003086789] Chr17:28524487..28524488 [GRCh38]
Chr17:26851505..26851506 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1144G>A (p.Asp382Asn) single nucleotide variant Inborn genetic diseases [RCV002921549] Chr17:28534715 [GRCh38]
Chr17:26861733 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1367T>A (p.Leu456Ter) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003029583]|T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [RCV003138449] Chr17:28534938 [GRCh38]
Chr17:26861956 [GRCh37]
Chr17:17q11.2
pathogenic|likely pathogenic
NM_001369369.1(FOXN1):c.1321G>A (p.Asp441Asn) single nucleotide variant Inborn genetic diseases [RCV002807449] Chr17:28534892 [GRCh38]
Chr17:26861910 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1835A>G (p.His612Arg) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003090299] Chr17:28537324 [GRCh38]
Chr17:26864342 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1431del (p.His478fs) deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002834975] Chr17:28535000 [GRCh38]
Chr17:26862018 [GRCh37]
Chr17:17q11.2
pathogenic
NM_001369369.1(FOXN1):c.554C>G (p.Pro185Arg) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002807255] Chr17:28524933 [GRCh38]
Chr17:26851951 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1046A>G (p.Asn349Ser) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002807014] Chr17:28534449 [GRCh38]
Chr17:26861467 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1705T>A (p.Ser569Thr) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002628295] Chr17:28537194 [GRCh38]
Chr17:26864212 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.534G>A (p.Glu178=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002806369] Chr17:28524913 [GRCh38]
Chr17:26851931 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.225C>T (p.Pro75=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002633637] Chr17:28524604 [GRCh38]
Chr17:26851622 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.68G>A (p.Arg23His) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003093174] Chr17:28524037 [GRCh38]
Chr17:26851055 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1316T>G (p.Leu439Arg) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003052619] Chr17:28534887 [GRCh38]
Chr17:26861905 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.578C>T (p.Pro193Leu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003068269] Chr17:28524957 [GRCh38]
Chr17:26851975 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.217C>T (p.Pro73Ser) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003067193] Chr17:28524596 [GRCh38]
Chr17:26851614 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.341G>A (p.Arg114Gln) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002588151] Chr17:28524720 [GRCh38]
Chr17:26851738 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.462G>A (p.Pro154=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002584694] Chr17:28524841 [GRCh38]
Chr17:26851859 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.534G>T (p.Glu178Asp) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV002613054] Chr17:28524913 [GRCh38]
Chr17:26851931 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1945T>G (p.Ter649Gly) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003224683] Chr17:28537434 [GRCh38]
Chr17:26864452 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.668T>G (p.Met223Arg) single nucleotide variant not provided [RCV003222907] Chr17:28527330 [GRCh38]
Chr17:26854348 [GRCh37]
Chr17:17q11.2
likely pathogenic|uncertain significance
NM_001369369.1(FOXN1):c.1545G>T (p.Met515Ile) single nucleotide variant Inborn genetic diseases [RCV003200614] Chr17:28535116 [GRCh38]
Chr17:26862134 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1318C>T (p.Gln440Ter) single nucleotide variant not provided [RCV003222908] Chr17:28534889 [GRCh38]
Chr17:26861907 [GRCh37]
Chr17:17q11.2
pathogenic
GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3 copy number gain Developmental delay with or without intellectual impairment or behavioral abnormalities [RCV003329553] Chr17:25263507..27829791 [GRCh37]
Chr17:17q11.1-11.2
uncertain significance
NM_001369369.1(FOXN1):c.1226C>T (p.Pro409Leu) single nucleotide variant Inborn genetic diseases [RCV003369894] Chr17:28534797 [GRCh38]
Chr17:26861815 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1012A>G (p.Ser338Gly) single nucleotide variant Inborn genetic diseases [RCV003381871] Chr17:28534415 [GRCh38]
Chr17:26861433 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.414C>T (p.Ala138=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003872978] Chr17:28524793 [GRCh38]
Chr17:26851811 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1809T>C (p.Gly603=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003875155] Chr17:28537298 [GRCh38]
Chr17:26864316 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1135+12C>T single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003873866] Chr17:28534550 [GRCh38]
Chr17:26861568 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1779G>A (p.Gly593=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003873921] Chr17:28537268 [GRCh38]
Chr17:26864286 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1366T>C (p.Leu456=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003874724] Chr17:28534937 [GRCh38]
Chr17:26861955 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1335G>C (p.Gly445=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003874569] Chr17:28534906 [GRCh38]
Chr17:26861924 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1872G>A (p.Glu624=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003511268] Chr17:28537361 [GRCh38]
Chr17:26864379 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.123+10C>A single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003511399] Chr17:28524102 [GRCh38]
Chr17:26851120 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.437G>A (p.Gly146Glu) single nucleotide variant FOXN1-related condition [RCV003404255] Chr17:28524816 [GRCh38]
Chr17:26851834 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1700C>A (p.Thr567Lys) single nucleotide variant FOXN1-related condition [RCV003397253] Chr17:28537189 [GRCh38]
Chr17:26864207 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1190T>G (p.Leu397Arg) single nucleotide variant FOXN1-related condition [RCV003410718] Chr17:28534761 [GRCh38]
Chr17:26861779 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1135+20G>T single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510085] Chr17:28534558 [GRCh38]
Chr17:26861576 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.335C>G (p.Pro112Arg) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003876268] Chr17:28524714 [GRCh38]
Chr17:26851732 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1236C>T (p.Pro412=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510101] Chr17:28534807 [GRCh38]
Chr17:26861825 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.786C>A (p.Thr262=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003829497] Chr17:28529180 [GRCh38]
Chr17:26856198 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.127C>T (p.His43Tyr) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510312] Chr17:28524506 [GRCh38]
Chr17:26851524 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.723C>T (p.Tyr241=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003825633] Chr17:28529117 [GRCh38]
Chr17:26856135 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1279C>T (p.His427Tyr) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003880613] Chr17:28534850 [GRCh38]
Chr17:26861868 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1530C>T (p.Ser510=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003509402] Chr17:28535101 [GRCh38]
Chr17:26862119 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.867T>A (p.Thr289=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003509413] Chr17:28530785 [GRCh38]
Chr17:26857803 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1383C>T (p.Gly461=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003509462] Chr17:28534954 [GRCh38]
Chr17:26861972 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1324_1336del (p.Leu442fs) deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510889] Chr17:28534894..28534906 [GRCh38]
Chr17:26861912..26861924 [GRCh37]
Chr17:17q11.2
pathogenic
NM_001369369.1(FOXN1):c.928-12C>G single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003878636] Chr17:28534319 [GRCh38]
Chr17:26861337 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1242A>T (p.Ala414=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510025] Chr17:28534813 [GRCh38]
Chr17:26861831 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1628-13C>T single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510618] Chr17:28537104 [GRCh38]
Chr17:26864122 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.363G>T (p.Ala121=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510052] Chr17:28524742 [GRCh38]
Chr17:26851760 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1135+5G>C single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003511230] Chr17:28534543 [GRCh38]
Chr17:26861561 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1374C>T (p.Leu458=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510783] Chr17:28534945 [GRCh38]
Chr17:26861963 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.189G>A (p.Leu63=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510132] Chr17:28524568 [GRCh38]
Chr17:26851586 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.928-4G>T single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510227] Chr17:28534327 [GRCh38]
Chr17:26861345 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1136-16C>G single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003876384] Chr17:28534691 [GRCh38]
Chr17:26861709 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.339G>C (p.Gly113=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510918] Chr17:28524718 [GRCh38]
Chr17:26851736 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1662G>A (p.Leu554=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510964] Chr17:28537151 [GRCh38]
Chr17:26864169 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.318G>A (p.Glu106=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003878766] Chr17:28524697 [GRCh38]
Chr17:26851715 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.589-1046A>G single nucleotide variant not specified [RCV003489138] Chr17:28526205 [GRCh38]
Chr17:26853223 [GRCh37]
Chr17:17q11.2
benign
NM_001369369.1(FOXN1):c.888G>A (p.Glu296=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003511107] Chr17:28530806 [GRCh38]
Chr17:26857824 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.684G>A (p.Gln228=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003511108] Chr17:28527346 [GRCh38]
Chr17:26854364 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.792G>T (p.Gly264=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003882413] Chr17:28529186 [GRCh38]
Chr17:26856204 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1135+19C>T single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003511122] Chr17:28534557 [GRCh38]
Chr17:26861575 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.969A>G (p.Leu323=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003877121] Chr17:28534372 [GRCh38]
Chr17:26861390 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1436T>A (p.Leu479His) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003511316] Chr17:28535007 [GRCh38]
Chr17:26862025 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.263C>T (p.Pro88Leu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003882097] Chr17:28524642 [GRCh38]
Chr17:26851660 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.6del (p.Ser3fs) deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510608] Chr17:28523975 [GRCh38]
Chr17:26850993 [GRCh37]
Chr17:17q11.2
pathogenic
NM_001369369.1(FOXN1):c.681C>T (p.Ser227=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003876769] Chr17:28527343 [GRCh38]
Chr17:26854361 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.830+4C>T single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003509181] Chr17:28529228 [GRCh38]
Chr17:26856246 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1712T>C (p.Met571Thr) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510787] Chr17:28537201 [GRCh38]
Chr17:26864219 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1340C>T (p.Thr447Ile) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510688] Chr17:28534911 [GRCh38]
Chr17:26861929 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1548C>T (p.His516=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510898] Chr17:28535119 [GRCh38]
Chr17:26862137 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.516G>A (p.Leu172=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510676] Chr17:28524895 [GRCh38]
Chr17:26851913 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.470C>A (p.Ala157Asp) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003511196] Chr17:28524849 [GRCh38]
Chr17:26851867 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1628-5del deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510044] Chr17:28537112 [GRCh38]
Chr17:26864130 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.927+9A>G single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003509258] Chr17:28530854 [GRCh38]
Chr17:26857872 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.928-20G>C single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510400] Chr17:28534311 [GRCh38]
Chr17:26861329 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.300T>C (p.Pro100=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510493] Chr17:28524679 [GRCh38]
Chr17:26851697 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1050G>C (p.Pro350=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003509383] Chr17:28534453 [GRCh38]
Chr17:26861471 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.495G>A (p.Val165=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003509401] Chr17:28524874 [GRCh38]
Chr17:26851892 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.927+18C>T single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510156] Chr17:28530863 [GRCh38]
Chr17:26857881 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1527T>A (p.Pro509=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003824429] Chr17:28535098 [GRCh38]
Chr17:26862116 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.636G>A (p.Gly212=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003511192] Chr17:28527298 [GRCh38]
Chr17:26854316 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1493del (p.Pro498fs) deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003509270] Chr17:28535061 [GRCh38]
Chr17:26862079 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1521C>T (p.Ala507=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510280] Chr17:28535092 [GRCh38]
Chr17:26862110 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.98_114del (p.Leu33fs) deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003509455] Chr17:28524064..28524080 [GRCh38]
Chr17:26851082..26851098 [GRCh37]
Chr17:17q11.2
pathogenic
NM_001369369.1(FOXN1):c.1065G>A (p.Lys355=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510323] Chr17:28534468 [GRCh38]
Chr17:26861486 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.894C>T (p.Tyr298=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003509153] Chr17:28530812 [GRCh38]
Chr17:26857830 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.831-6del deletion T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510526] Chr17:28530743 [GRCh38]
Chr17:26857761 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1386G>A (p.Leu462=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003511445] Chr17:28534957 [GRCh38]
Chr17:26861975 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1889C>A (p.Ala630Asp) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510340] Chr17:28537378 [GRCh38]
Chr17:26864396 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1149C>T (p.Ser383=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003509256] Chr17:28534720 [GRCh38]
Chr17:26861738 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.118C>T (p.Gln40Ter) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510612] Chr17:28524087 [GRCh38]
Chr17:26851105 [GRCh37]
Chr17:17q11.2
pathogenic
NM_001369369.1(FOXN1):c.1135+7C>T single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003511021] Chr17:28534545 [GRCh38]
Chr17:26861563 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.345C>G (p.Phe115Leu) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510633] Chr17:28524724 [GRCh38]
Chr17:26851742 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001369369.1(FOXN1):c.1704A>G (p.Ser568=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003509888] Chr17:28537193 [GRCh38]
Chr17:26864211 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1473G>T (p.Ser491=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003510666] Chr17:28535044 [GRCh38]
Chr17:26862062 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.123+13C>T single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003509861] Chr17:28524105 [GRCh38]
Chr17:26851123 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1818G>A (p.Gly606=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003509125] Chr17:28537307 [GRCh38]
Chr17:26864325 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1263A>G (p.Pro421=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003509127] Chr17:28534834 [GRCh38]
Chr17:26861852 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1095G>A (p.Arg365=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003834810] Chr17:28534498 [GRCh38]
Chr17:26861516 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.30C>T (p.Asp10=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003850166] Chr17:28523999 [GRCh38]
Chr17:26851017 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.366C>T (p.Pro122=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003852372] Chr17:28524745 [GRCh38]
Chr17:26851763 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.399C>T (p.Asp133=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003852163] Chr17:28524778 [GRCh38]
Chr17:26851796 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1203C>T (p.Pro401=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003811235] Chr17:28534774 [GRCh38]
Chr17:26861792 [GRCh37]
Chr17:17q11.2
likely benign
NM_001369369.1(FOXN1):c.1210C>T (p.Leu404=) single nucleotide variant T-cell immunodeficiency, congenital alopecia, and nail dystrophy [RCV003849715] Chr17:28534781 [GRCh38]
Chr17:26861799 [GRCh37]
Chr17:17q11.2
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1463
Count of miRNA genes:802
Interacting mature miRNAs:917
Transcripts:ENST00000226247, ENST00000577936, ENST00000579795
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 4 1 1 20 1 1292 1 4 130 22 20 4 687
Low 66 8 211 51 20 8 44 11 20 70 608 312 50 11 24
Below cutoff 1687 1962 1017 288 947 192 1849 1407 2043 178 514 1098 99 829 1406 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC015917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI288186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT583855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y11739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y11740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y11741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y11742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y11743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y11744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y11745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y11746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000226247   ⟹   ENSP00000226247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,523,941 - 28,538,896 (+)Ensembl
RefSeq Acc Id: ENST00000577936   ⟹   ENSP00000462159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,506,243 - 28,538,896 (+)Ensembl
RefSeq Acc Id: ENST00000579795   ⟹   ENSP00000464645
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,506,348 - 28,538,900 (+)Ensembl
RefSeq Acc Id: NM_001369369   ⟹   NP_001356298
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,506,348 - 28,538,900 (+)NCBI
T2T-CHM13v2.01729,449,365 - 29,481,520 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003593   ⟹   NP_003584
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,523,941 - 28,538,900 (+)NCBI
GRCh371726,833,249 - 26,865,175 (+)NCBI
Build 361723,875,086 - 23,889,302 (+)NCBI Archive
HuRef1723,059,775 - 23,073,995 (+)ENTREZGENE
CHM1_11726,912,657 - 26,926,877 (+)NCBI
T2T-CHM13v2.01729,466,557 - 29,481,520 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011525358   ⟹   XP_011523660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,506,348 - 28,538,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011525359   ⟹   XP_011523661
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,506,348 - 28,538,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011525362   ⟹   XP_011523664
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,506,348 - 28,538,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011525367   ⟹   XP_011523669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,525,573 - 28,538,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011525368   ⟹   XP_011523670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,506,348 - 28,538,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011525369   ⟹   XP_011523671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,525,182 - 28,538,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011525370   ⟹   XP_011523672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,525,182 - 28,538,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025229   ⟹   XP_016880718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,506,348 - 28,538,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025230   ⟹   XP_016880719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,506,348 - 28,538,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025231   ⟹   XP_016880720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,506,348 - 28,535,109 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047436939   ⟹   XP_047292895
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,523,941 - 28,538,900 (+)NCBI
RefSeq Acc Id: XM_054317551   ⟹   XP_054173526
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01729,449,365 - 29,481,520 (+)NCBI
RefSeq Acc Id: XM_054317552   ⟹   XP_054173527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01729,449,365 - 29,481,520 (+)NCBI
RefSeq Acc Id: XM_054317553   ⟹   XP_054173528
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01729,449,365 - 29,481,520 (+)NCBI
RefSeq Acc Id: XM_054317554   ⟹   XP_054173529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01729,466,557 - 29,481,520 (+)NCBI
RefSeq Acc Id: XM_054317555   ⟹   XP_054173530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01729,449,365 - 29,481,520 (+)NCBI
RefSeq Acc Id: XM_054317556   ⟹   XP_054173531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01729,449,365 - 29,481,520 (+)NCBI
RefSeq Acc Id: XM_054317557   ⟹   XP_054173532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01729,468,192 - 29,481,520 (+)NCBI
RefSeq Acc Id: XM_054317558   ⟹   XP_054173533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01729,449,365 - 29,481,520 (+)NCBI
RefSeq Acc Id: XM_054317559   ⟹   XP_054173534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01729,467,801 - 29,481,520 (+)NCBI
RefSeq Acc Id: XM_054317560   ⟹   XP_054173535
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01729,467,801 - 29,481,520 (+)NCBI
RefSeq Acc Id: XM_054317561   ⟹   XP_054173536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01729,449,365 - 29,477,729 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001356298 (Get FASTA)   NCBI Sequence Viewer  
  NP_003584 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523660 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523661 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523664 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523669 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523670 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523671 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523672 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880718 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880719 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880720 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292895 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173526 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173527 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173528 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173529 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173530 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173531 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173532 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173533 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173534 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173535 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173536 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein BAG36604 (Get FASTA)   NCBI Sequence Viewer  
  CAA72416 (Get FASTA)   NCBI Sequence Viewer  
  CAA72417 (Get FASTA)   NCBI Sequence Viewer  
  EAW51092 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000226247
  ENSP00000226247.2
  ENSP00000462159.1
  ENSP00000462159.2
  ENSP00000464645
  ENSP00000464645.1
GenBank Protein O15353 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_003584   ⟸   NM_003593
- UniProtKB: B2R9Q7 (UniProtKB/Swiss-Prot),   O15352 (UniProtKB/Swiss-Prot),   O15353 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011523660   ⟸   XM_011525358
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011523670   ⟸   XM_011525368
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011523661   ⟸   XM_011525359
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011523664   ⟸   XM_011525362
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011523671   ⟸   XM_011525369
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011523672   ⟸   XM_011525370
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011523669   ⟸   XM_011525367
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016880718   ⟸   XM_017025229
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016880719   ⟸   XM_017025230
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016880720   ⟸   XM_017025231
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: NP_001356298   ⟸   NM_001369369
- UniProtKB: O15353 (UniProtKB/Swiss-Prot),   B2R9Q7 (UniProtKB/Swiss-Prot),   O15352 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: ENSP00000462159   ⟸   ENST00000577936
RefSeq Acc Id: ENSP00000464645   ⟸   ENST00000579795
RefSeq Acc Id: ENSP00000226247   ⟸   ENST00000226247
RefSeq Acc Id: XP_047292895   ⟸   XM_047436939
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054173527   ⟸   XM_054317552
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054173528   ⟸   XM_054317553
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054173526   ⟸   XM_054317551
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054173530   ⟸   XM_054317555
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054173531   ⟸   XM_054317556
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054173533   ⟸   XM_054317558
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054173536   ⟸   XM_054317561
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054173529   ⟸   XM_054317554
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054173534   ⟸   XM_054317559
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054173535   ⟸   XM_054317560
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054173532   ⟸   XM_054317557
- Peptide Label: isoform X6

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O15353-F1-model_v2 AlphaFold O15353 1-648 view protein structure

Promoters
RGD ID:7234359
Promoter ID:EPDNEW_H22925
Type:initiation region
Name:FOXN1_2
Description:forkhead box N1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22926  EPDNEW_H22927  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,506,239 - 28,506,299EPDNEW
RGD ID:7234361
Promoter ID:EPDNEW_H22926
Type:multiple initiation site
Name:FOXN1_1
Description:forkhead box N1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22925  EPDNEW_H22927  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,506,353 - 28,506,413EPDNEW
RGD ID:7234365
Promoter ID:EPDNEW_H22927
Type:multiple initiation site
Name:FOXN1_3
Description:forkhead box N1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22925  EPDNEW_H22926  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,506,549 - 28,506,609EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12765 AgrOrtholog
COSMIC FOXN1 COSMIC
Ensembl Genes ENSG00000109101 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000226247 ENTREZGENE
  ENST00000226247.2 UniProtKB/Swiss-Prot
  ENST00000577936.1 UniProtKB/TrEMBL
  ENST00000577936.2 UniProtKB/Swiss-Prot
  ENST00000579795 ENTREZGENE
  ENST00000579795.6 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000109101 GTEx
HGNC ID HGNC:12765 ENTREZGENE
Human Proteome Map FOXN1 Human Proteome Map
InterPro FH_FOXN1 UniProtKB/Swiss-Prot
  Fork_head_dom UniProtKB/Swiss-Prot
  TF_fork_head_CS_2 UniProtKB/Swiss-Prot
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot
  WH_DNA-bd_sf UniProtKB/Swiss-Prot
KEGG Report hsa:8456 UniProtKB/Swiss-Prot
NCBI Gene 8456 ENTREZGENE
OMIM 600838 OMIM
PANTHER FORKHEAD BOX PROTEIN N1 UniProtKB/Swiss-Prot
  FORKHEAD BOX PROTEIN N1 UniProtKB/Swiss-Prot
  FORKHEAD BOX PROTEIN N1 UniProtKB/TrEMBL
  FORKHEAD BOX PROTEIN N1 UniProtKB/TrEMBL
Pfam Forkhead UniProtKB/Swiss-Prot
PharmGKB PA37368 PharmGKB
PRINTS FORKHEAD UniProtKB/Swiss-Prot
PROSITE FORK_HEAD_2 UniProtKB/Swiss-Prot
  FORK_HEAD_3 UniProtKB/Swiss-Prot
SMART SM00339 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot
UniProt B2R9Q7 ENTREZGENE
  FOXN1_HUMAN UniProtKB/Swiss-Prot
  J3KRT9_HUMAN UniProtKB/TrEMBL
  O15352 ENTREZGENE
  O15353 ENTREZGENE
UniProt Secondary B2R9Q7 UniProtKB/Swiss-Prot
  O15352 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 FOXN1  forkhead box N1  RONU  Rowett nude  Data merged from RGD:1345670 737654 PROVISIONAL