RGD:11659677 Rat Genome Database

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Variant: RGD:11659677 -  Homo sapiens

RGD ID: 11659677
RS ID: rs886052761
ClinVar ID: CV327864
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXN1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 26,864,950
GRCh38 17 28,537,932
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_61t1:c.*496C>T
LRG_61:g.18992C>T
NG_007260.1:g.18992C>T
NC_000017.11:g.28537932C>T
More... 		01/13/2018 3 prime utr 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


Variant Details
Variant Transcripts
Gene Symbol:FOXN1
Accession:XM_011525362
Location:3UTRS;EXON

Gene Symbol:FOXN1
Accession:XM_011525367
Location:3UTRS;EXON

Gene Symbol:FOXN1
Accession:XM_011525368
Location:3UTRS;EXON

Gene Symbol:FOXN1
Accession:XM_011525359
Location:3UTRS;EXON

Gene Symbol:FOXN1
Accession:XM_017025230
Location:3UTRS;EXON

Gene Symbol:FOXN1
Accession:XM_011525358
Location:3UTRS;EXON

Gene Symbol:FOXN1
Accession:XM_017025229
Location:3UTRS;EXON

Gene Symbol:FOXN1
Accession:NM_001369369
Location:3UTRS;EXON

Gene Symbol:FOXN1
Accession:NM_003593
Location:3UTRS;EXON

Gene Symbol:FOXN1
Accession:XM_011525369
Location:3UTRS;EXON

Gene Symbol:FOXN1
Accession:XM_047436939
Location:3UTRS;EXON

Gene Symbol:FOXN1
Accession:XM_011525370
Location:3UTRS;EXON

Gene Symbol:FOXN1
Accession:XM_017025231
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000360378 CLINVAR
dbSNP (RS) rs886052761 CLINVAR
MedGen C1866426 CLINVAR
NCBI Gene FOXN1 CLINVAR
OMIM 600838 CLINVAR
  601705 CLINVAR