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# | 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 |
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 |
FOXN1 (Homo sapiens - human) |
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Foxn1 (Mus musculus - house mouse) |
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Foxn1 (Rattus norvegicus - Norway rat) |
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Foxn1 (Chinchilla lanigera - long-tailed chinchilla) |
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FOXN1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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FOXN1 (Canis lupus familiaris - dog) |
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Foxn1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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FOXN1 (Sus scrofa - pig) |
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FOXN1 (Chlorocebus sabaeus - green monkey) |
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Foxn1 (Heterocephalus glaber - naked mole-rat) |
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Variants in FOXN1
449 total 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 |
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. |
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 |
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: |
|
RefSeq Acc Id: | ENST00000577936 ⟹ ENSP00000462159 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000579795 ⟹ ENSP00000464645 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001369369 ⟹ NP_001356298 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_003593 ⟹ NP_003584 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_011525358 ⟹ XP_011523660 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011525359 ⟹ XP_011523661 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011525362 ⟹ XP_011523664 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011525367 ⟹ XP_011523669 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011525368 ⟹ XP_011523670 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011525369 ⟹ XP_011523671 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011525370 ⟹ XP_011523672 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017025229 ⟹ XP_016880718 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017025230 ⟹ XP_016880719 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017025231 ⟹ XP_016880720 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047436939 ⟹ XP_047292895 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054317551 ⟹ XP_054173526 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054317552 ⟹ XP_054173527 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054317553 ⟹ XP_054173528 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054317554 ⟹ XP_054173529 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054317555 ⟹ XP_054173530 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054317556 ⟹ XP_054173531 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054317557 ⟹ XP_054173532 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054317558 ⟹ XP_054173533 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054317559 ⟹ XP_054173534 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054317560 ⟹ XP_054173535 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054317561 ⟹ XP_054173536 | ||||||||
Type: | CODING | ||||||||
Position: |
|
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 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-O15353-F1-model_v2 | AlphaFold | O15353 | 1-648 | view protein structure |
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: |
|
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: |
|
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: |
|
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 |
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 |