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Variant (rsID / SNP)

rs121434226

IRF6

rs121434226 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IRF6. Location: chromosome 1, position 209,969,822. Clinical significance in the table: Pathogenic.

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Reference-table entries

IRF6Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:209969822
Cytoband
1q32.2
HGVS
NM_006147.4(IRF6):c.250C>T (p.Arg84Cys)
Allele change
Missense_R84C

Associated conditions / phenotypes

Popliteal pterygium syndrome|Autosomal dominant popliteal pterygium syndrome|Van der Woude syndrome|Orofacial cleft 6, susceptibility to|Popliteal pterygium syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.