RGD:404980394 Rat Genome Database

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Variant: RGD:404980394 -  Homo sapiens

RGD ID: 404980394
ClinVar ID: CV2887170
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXN1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 26,851,120
GRCh38 17 28,524,102
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001369369.1:c.123+10C>A
NM_003593.3:c.123+10C>A
LRG_61:g.5162C>A
NG_007260.1:g.5162C>A
More... 		06/28/2023 intron variant likely benign 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_011525368
Location:5UTRS;INTRON

Gene Symbol:FOXN1
Accession:XM_017025230
Location:INTRON

Gene Symbol:FOXN1
Accession:XM_011525362
Location:INTRON

Gene Symbol:FOXN1
Accession:NM_001369369
Location:INTRON

Gene Symbol:FOXN1
Accession:XM_011525370
Location:INTRON

Gene Symbol:FOXN1
Accession:NM_003593
Location:INTRON

Gene Symbol:FOXN1
Accession:XM_011525369
Location:INTRON

Gene Symbol:FOXN1
Accession:XM_011525359
Location:INTRON

Gene Symbol:FOXN1
Accession:XM_011525358
Location:INTRON

Gene Symbol:FOXN1
Accession:XM_017025231
Location:INTRON

Gene Symbol:FOXN1
Accession:XM_011525367
Location:INTRON

Gene Symbol:FOXN1
Accession:XM_047436939
Location:INTRON

Gene Symbol:FOXN1
Accession:XM_017025229
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003511399 CLINVAR
MedGen C1866426 CLINVAR
NCBI Gene FOXN1 CLINVAR
OMIM 600838 CLINVAR
  601705 CLINVAR