Database of Pathogenic Variants
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Gene Detail
Gene Symbol
IRF6
Gene:3664
HGNC:6121
Gene Name
interferon regulatory factor 6
Chromosome
1
Cytogenetic Band
q32.2
RefSeq Accession
NM_006147
Associated Diseases
Popliteal pterygium syndrome
Associated Variants
NM_006147.3:c.250C>A