Variant (rsID / SNP)

rs769068305

rs769068305 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IRF6. Location: chromosome 1, position 209,961,959. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

IRF6Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:209961959
Cytoband: 1q32.2
HGVS: NM_006147.4(IRF6):c.1210G>A (p.Glu404Lys)
Allele change: Missense_E404K

Associated conditions / phenotypes

Van der Woude syndrome 1|Popliteal pterygium syndrome|Orofacial cleft 6, susceptibility to|Van der Woude syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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