RGD:11629379 Rat Genome Database

Variant: RGD:11629379 - Homo sapiens

RGD ID:

11629379

RS ID:

rs200053524

ClinVar ID:

CV345355

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

FOXN1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	17	26,862,138
GRCh38	17	28,535,120

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
LRG_61:g.16180G>T NG_007260.1:g.16180G>T NC_000017.11:g.28535120G>T NC_000017.10:g.26862138G>T More...	09/18/2021	missense variant	uncertain significance	infancy	<1 / 1 000 000	Congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency; Pignata Guarino syndrome

Disease Annotations Click to see Annotation Detail View

T-cell immunodeficiency, congenital alopecia, and nail dystrophy (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	FOXN1
Accession:	XM_011525359
Location:	EXON
Amino Acid Prediction:	D to Y (nonsynonymous)
Amino Acid Position:	518

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSLPPPQSDVTLPGPTRLEGERQGDLMQAPGLPGSPAPQSKHAGFSCSSFVSDGPPERTPSLPPHSPRIASPGPEQVQG HCPAGPGPGPFRLSPSDKYPGFGFEEAAASSPGRFLKGSHAPFHPYKRPFHEDVFPEAETTLALKGHSFKTPGPLEAFEE IPVDVAEAEAFLPGFSAEAWCNGLPYPSQEHGPQVLQGSEVKVKPPVLESGAGMFCYQPPLQHMYCSSQPPFHQYSPGGG SYPIPYLGSSHYQYQRMAPQASTDGHQPLFPKPIYSYSILIFMALKNSKTGSLPVSEIYNFMTEHFPYFKTAPDGWKNSV RHNLSLNKCFEKVENKSGSSSRKGCLWALNPAKIDKMQEELQKWKRKDPIAVRKSMAKPEELDSLIGDKREKLGSPLLGC PPPGLSGSGPIRPLAPPAGLSPPLHSLHPAPGPIPGKNPLQDLLMGHTPSCYGQTYLHLSPGLAPPGPPQPLFPQPDGHL ELRAQPGTPQDSPLPAHTPPSHSAKLLAEPSPARTMHYTLLPDGDLGTDLDAINPSLTDFDFQGNLWEQLKDDSLALDPL VLVTSSPTSSSMPPPQPPPHCFPPGPCLTETGSGAGDLAAPGSGGSGALGDLHLTTLYSAFMELEPTPPTAPAGPSVYLS PSSKPVALA*

Gene Symbol:	FOXN1
Accession:	NM_001369369
Location:	EXON
Amino Acid Prediction:	D to Y (nonsynonymous)
Amino Acid Position:	517

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSLPPPQSDVTLPGPTRLEGERQGDLMQAPGLPGSPAPQSKHAGFSCSSFVSDGPPERTPSLPPHSPRIASPGPEQVQG HCPAGPGPGPFRLSPSDKYPGFGFEEAAASSPGRFLKGSHAPFHPYKRPFHEDVFPEAETTLALKGHSFKTPGPLEAFEE IPVDVAEAEAFLPGFSAEAWCNGLPYPSQEHGPQVLGSEVKVKPPVLESGAGMFCYQPPLQHMYCSSQPPFHQYSPGGGS YPIPYLGSSHYQYQRMAPQASTDGHQPLFPKPIYSYSILIFMALKNSKTGSLPVSEIYNFMTEHFPYFKTAPDGWKNSVR HNLSLNKCFEKVENKSGSSSRKGCLWALNPAKIDKMQEELQKWKRKDPIAVRKSMAKPEELDSLIGDKREKLGSPLLGCP PPGLSGSGPIRPLAPPAGLSPPLHSLHPAPGPIPGKNPLQDLLMGHTPSCYGQTYLHLSPGLAPPGPPQPLFPQPDGHLE LRAQPGTPQDSPLPAHTPPSHSAKLLAEPSPARTMHYTLLPDGDLGTDLDAINPSLTDFDFQGNLWEQLKDDSLALDPLV LVTSSPTSSSMPPPQPPPHCFPPGPCLTETGSGAGDLAAPGSGGSGALGDLHLTTLYSAFMELEPTPPTAPAGPSVYLSP SSKPVALA*

Gene Symbol:	FOXN1
Accession:	XM_011525368
Location:	EXON
Amino Acid Prediction:	D to Y (nonsynonymous)
Amino Acid Position:	305

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFCYQPPLQHMYCSSQPPFHQYSPGGGSYPIPYLGSSHYQYQRMAPQASTDGHQPLFPKPIYSYSILIFMALKNSKTGSL PVSEIYNFMTEHFPYFKTAPDGWKNSVRHNLSLNKCFEKVENKSGSSSRKGCLWALNPAKIDKMQEELQKWKRKDPIAVR KSMAKPEELDSLIGDKREKLGSPLLGCPPPGLSGSGPIRPLAPPAGLSPPLHSLHPAPGPIPGKNPLQDLLMGHTPSCYG QTYLHLSPGLAPPGPPQPLFPQPDGHLELRAQPGTPQDSPLPAHTPPSHSAKLLAEPSPARTMHYTLLPDGDLGTDLDAI NPSLTDFDFQGNLWEQLKDDSLALDPLVLVTSSPTSSSMPPPQPPPHCFPPGPCLTETGSGAGDLAAPGSGGSGALGDLH LTTLYSAFMELEPTPPTAPAGPSVYLSPSSKPVALA*

Gene Symbol:	FOXN1
Accession:	XM_047436939
Location:	EXON
Amino Acid Prediction:	D to Y (nonsynonymous)
Amino Acid Position:	516

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSLPPPQSDVTLPGPTRLEGERQGDLMQAPGLPGSPAPQSHAGFSCSSFVSDGPPERTPSLPPHSPRIASPGPEQVQGH CPAGPGPGPFRLSPSDKYPGFGFEEAAASSPGRFLKGSHAPFHPYKRPFHEDVFPEAETTLALKGHSFKTPGPLEAFEEI PVDVAEAEAFLPGFSAEAWCNGLPYPSQEHGPQVLGSEVKVKPPVLESGAGMFCYQPPLQHMYCSSQPPFHQYSPGGGSY PIPYLGSSHYQYQRMAPQASTDGHQPLFPKPIYSYSILIFMALKNSKTGSLPVSEIYNFMTEHFPYFKTAPDGWKNSVRH NLSLNKCFEKVENKSGSSSRKGCLWALNPAKIDKMQEELQKWKRKDPIAVRKSMAKPEELDSLIGDKREKLGSPLLGCPP PGLSGSGPIRPLAPPAGLSPPLHSLHPAPGPIPGKNPLQDLLMGHTPSCYGQTYLHLSPGLAPPGPPQPLFPQPDGHLEL RAQPGTPQDSPLPAHTPPSHSAKLLAEPSPARTMHYTLLPDGDLGTDLDAINPSLTDFDFQGNLWEQLKDDSLALDPLVL VTSSPTSSSMPPPQPPPHCFPPGPCLTETGSGAGDLAAPGSGGSGALGDLHLTTLYSAFMELEPTPPTAPAGPSVYLSPS SKPVALA*

Gene Symbol:	FOXN1
Accession:	XM_011525370
Location:	EXON
Amino Acid Prediction:	D to Y (nonsynonymous)
Amino Acid Position:	305

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFCYQPPLQHMYCSSQPPFHQYSPGGGSYPIPYLGSSHYQYQRMAPQASTDGHQPLFPKPIYSYSILIFMALKNSKTGSL PVSEIYNFMTEHFPYFKTAPDGWKNSVRHNLSLNKCFEKVENKSGSSSRKGCLWALNPAKIDKMQEELQKWKRKDPIAVR KSMAKPEELDSLIGDKREKLGSPLLGCPPPGLSGSGPIRPLAPPAGLSPPLHSLHPAPGPIPGKNPLQDLLMGHTPSCYG QTYLHLSPGLAPPGPPQPLFPQPDGHLELRAQPGTPQDSPLPAHTPPSHSAKLLAEPSPARTMHYTLLPDGDLGTDLDAI NPSLTDFDFQGNLWEQLKDDSLALDPLVLVTSSPTSSSMPPPQPPPHCFPPGPCLTETGSGAGDLAAPGSGGSGALGDLH LTTLYSAFMELEPTPPTAPAGPSVYLSPSSKPVALA*

Gene Symbol:	FOXN1
Accession:	XM_011525362
Location:	EXON
Amino Acid Prediction:	D to Y (nonsynonymous)
Amino Acid Position:	517

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSLPPPQSDVTLPGPTRLEGERQGDLMQAPGLPGSPAPQSHAGFSCSSFVSDGPPERTPSLPPHSPRIASPGPEQVQGH CPAGPGPGPFRLSPSDKYPGFGFEEAAASSPGRFLKGSHAPFHPYKRPFHEDVFPEAETTLALKGHSFKTPGPLEAFEEI PVDVAEAEAFLPGFSAEAWCNGLPYPSQEHGPQVLQGSEVKVKPPVLESGAGMFCYQPPLQHMYCSSQPPFHQYSPGGGS YPIPYLGSSHYQYQRMAPQASTDGHQPLFPKPIYSYSILIFMALKNSKTGSLPVSEIYNFMTEHFPYFKTAPDGWKNSVR HNLSLNKCFEKVENKSGSSSRKGCLWALNPAKIDKMQEELQKWKRKDPIAVRKSMAKPEELDSLIGDKREKLGSPLLGCP PPGLSGSGPIRPLAPPAGLSPPLHSLHPAPGPIPGKNPLQDLLMGHTPSCYGQTYLHLSPGLAPPGPPQPLFPQPDGHLE LRAQPGTPQDSPLPAHTPPSHSAKLLAEPSPARTMHYTLLPDGDLGTDLDAINPSLTDFDFQGNLWEQLKDDSLALDPLV LVTSSPTSSSMPPPQPPPHCFPPGPCLTETGSGAGDLAAPGSGGSGALGDLHLTTLYSAFMELEPTPPTAPAGPSVYLSP SSKPVALA*

Gene Symbol:	FOXN1
Accession:	XM_011525367
Location:	EXON
Amino Acid Prediction:	D to Y (nonsynonymous)
Amino Acid Position:	331

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEKSSRDTQQGSEVKVKPPVLESGAGMFCYQPPLQHMYCSSQPPFHQYSPGGGSYPIPYLGSSHYQYQRMAPQASTDGHQ PLFPKPIYSYSILIFMALKNSKTGSLPVSEIYNFMTEHFPYFKTAPDGWKNSVRHNLSLNKCFEKVENKSGSSSRKGCLW ALNPAKIDKMQEELQKWKRKDPIAVRKSMAKPEELDSLIGDKREKLGSPLLGCPPPGLSGSGPIRPLAPPAGLSPPLHSL HPAPGPIPGKNPLQDLLMGHTPSCYGQTYLHLSPGLAPPGPPQPLFPQPDGHLELRAQPGTPQDSPLPAHTPPSHSAKLL AEPSPARTMHYTLLPDGDLGTDLDAINPSLTDFDFQGNLWEQLKDDSLALDPLVLVTSSPTSSSMPPPQPPPHCFPPGPC LTETGSGAGDLAAPGSGGSGALGDLHLTTLYSAFMELEPTPPTAPAGPSVYLSPSSKPVALA*

Gene Symbol:	FOXN1
Accession:	XM_017025229
Location:	EXON
Amino Acid Prediction:	D to Y (nonsynonymous)
Amino Acid Position:	436

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSLPPPQSDVTLPGPTRLEGERQGDLMQAPGLPGSPAPQSKHAGFSCSSFVSDGPPERTPSLPPHSPRIASPGPEQVQG HCPAGPGPGPFRLSPSDKYPGFGFEEAAASSPGRFLKGSHAPFHPYKRPFHEDVFPEAETTLALKGHSFKTPGPLEAFEE IPVDVAEAEAFLPGFSAEAWCNGLPYPSQEHGPQVLQGSEVKVKPPVLESGAGMFCYQPPLQHMYCSSQPPFHQYSPGGG SYPIPYLGSSHYQYQRMAPQASTDGHQPLFPKPIYSYSILIFMALKNSKTGSLPVSEIYNFMTEHFPYFKTAPDGWKNSV RHNLSLNKCFEKVENKSGSSSRKGCLWALNPAKIDKMQEELQKWKRKDPIAVRKSMAKPGLAPPGPPQPLFPQPDGHLEL RAQPGTPQDSPLPAHTPPSHSAKLLAEPSPARTMHYTLLPDGDLGTDLDAINPSLTDFDFQGNLWEQLKDDSLALDPLVL VTSSPTSSSMPPPQPPPHCFPPGPCLTETGSGAGDLAAPGSGGSGALGDLHLTTLYSAFMELEPTPPTAPAGPSVYLSPS SKPVALA*

Gene Symbol:	FOXN1
Accession:	NM_003593
Location:	EXON
Amino Acid Prediction:	D to Y (nonsynonymous)
Amino Acid Position:	517

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSLPPPQSDVTLPGPTRLEGERQGDLMQAPGLPGSPAPQSKHAGFSCSSFVSDGPPERTPSLPPHSPRIASPGPEQVQG HCPAGPGPGPFRLSPSDKYPGFGFEEAAASSPGRFLKGSHAPFHPYKRPFHEDVFPEAETTLALKGHSFKTPGPLEAFEE IPVDVAEAEAFLPGFSAEAWCNGLPYPSQEHGPQVLGSEVKVKPPVLESGAGMFCYQPPLQHMYCSSQPPFHQYSPGGGS YPIPYLGSSHYQYQRMAPQASTDGHQPLFPKPIYSYSILIFMALKNSKTGSLPVSEIYNFMTEHFPYFKTAPDGWKNSVR HNLSLNKCFEKVENKSGSSSRKGCLWALNPAKIDKMQEELQKWKRKDPIAVRKSMAKPEELDSLIGDKREKLGSPLLGCP PPGLSGSGPIRPLAPPAGLSPPLHSLHPAPGPIPGKNPLQDLLMGHTPSCYGQTYLHLSPGLAPPGPPQPLFPQPDGHLE LRAQPGTPQDSPLPAHTPPSHSAKLLAEPSPARTMHYTLLPDGDLGTDLDAINPSLTDFDFQGNLWEQLKDDSLALDPLV LVTSSPTSSSMPPPQPPPHCFPPGPCLTETGSGAGDLAAPGSGGSGALGDLHLTTLYSAFMELEPTPPTAPAGPSVYLSP SSKPVALA*

Gene Symbol:	FOXN1
Accession:	XM_011525358
Location:	EXON
Amino Acid Prediction:	D to Y (nonsynonymous)
Amino Acid Position:	518

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSLPPPQSDVTLPGPTRLEGERQGDLMQAPGLPGSPAPQSKHAGFSCSSFVSDGPPERTPSLPPHSPRIASPGPEQVQG HCPAGPGPGPFRLSPSDKYPGFGFEEAAASSPGRFLKGSHAPFHPYKRPFHEDVFPEAETTLALKGHSFKTPGPLEAFEE IPVDVAEAEAFLPGFSAEAWCNGLPYPSQEHGPQVLQGSEVKVKPPVLESGAGMFCYQPPLQHMYCSSQPPFHQYSPGGG SYPIPYLGSSHYQYQRMAPQASTDGHQPLFPKPIYSYSILIFMALKNSKTGSLPVSEIYNFMTEHFPYFKTAPDGWKNSV RHNLSLNKCFEKVENKSGSSSRKGCLWALNPAKIDKMQEELQKWKRKDPIAVRKSMAKPEELDSLIGDKREKLGSPLLGC PPPGLSGSGPIRPLAPPAGLSPPLHSLHPAPGPIPGKNPLQDLLMGHTPSCYGQTYLHLSPGLAPPGPPQPLFPQPDGHL ELRAQPGTPQDSPLPAHTPPSHSAKLLAEPSPARTMHYTLLPDGDLGTDLDAINPSLTDFDFQGNLWEQLKDDSLALDPL VLVTSSPTSSSMPPPQPPPHCFPPGPCLTETGSGAGDLAAPGSGGSGALGDLHLTTLYSAFMELEPTPPTAPAGPSVYLS PSSKPVALA*

Gene Symbol:	FOXN1
Accession:	XM_011525369
Location:	EXON
Amino Acid Prediction:	D to Y (nonsynonymous)
Amino Acid Position:	305

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFCYQPPLQHMYCSSQPPFHQYSPGGGSYPIPYLGSSHYQYQRMAPQASTDGHQPLFPKPIYSYSILIFMALKNSKTGSL PVSEIYNFMTEHFPYFKTAPDGWKNSVRHNLSLNKCFEKVENKSGSSSRKGCLWALNPAKIDKMQEELQKWKRKDPIAVR KSMAKPEELDSLIGDKREKLGSPLLGCPPPGLSGSGPIRPLAPPAGLSPPLHSLHPAPGPIPGKNPLQDLLMGHTPSCYG QTYLHLSPGLAPPGPPQPLFPQPDGHLELRAQPGTPQDSPLPAHTPPSHSAKLLAEPSPARTMHYTLLPDGDLGTDLDAI NPSLTDFDFQGNLWEQLKDDSLALDPLVLVTSSPTSSSMPPPQPPPHCFPPGPCLTETGSGAGDLAAPGSGGSGALGDLH LTTLYSAFMELEPTPPTAPAGPSVYLSPSSKPVALA*

Gene Symbol:	FOXN1
Accession:	XM_017025230
Location:	INTRON

Gene Symbol:	FOXN1
Accession:	XM_017025231
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000322459	CLINVAR
dbSNP (RS)	rs200053524	CLINVAR
MedGen	C1866426	CLINVAR
NCBI Gene	FOXN1	CLINVAR
OMIM	600838	CLINVAR
	601705	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:11629379 - Homo sapiens

Imported Disease Annotations - ClinVar