Variant (rsID / SNP)

rs2235371

rs2235371 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IRF6. Location: chromosome 1, position 209,964,080. Clinical significance in the table: Benign.

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Reference-table entries

IRF6Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:209964080
Cytoband: 1q32.2
HGVS: NM_006147.4(IRF6):c.820G>A (p.Val274Ile)
Allele change: Missense_V274I

Associated conditions / phenotypes

Orofacial cleft 6, susceptibility to|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.