Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
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(IRF6 Val274Ile)
Short summary
Common polymorphism. Zucchero et al. find an association between V allele homozygosity and Van der Woude syndrome, but also conclude this variant is not causative.
Impact
Insufficiently evaluated not reviewed
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Inheritance pattern
unknown
Summary of published research, and additional commentary
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hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424 het T @ chr1:209964080
hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426 hom T @ chr1:209964080
huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034 hom T @ chr1:209964080
GS18537 - var-GS18537-1100-36-ASM het T @ chr1:208030703
GS18940 - var-GS18940-1100-36-ASM het T @ chr1:208030703
GS18942 - var-GS18942-1100-36-ASM het T @ chr1:208030703
GS19669 - var-GS19669-1100-36-ASM het T @ chr1:208030703
GS19735 - var-GS19735-1100-36-ASM hom T @ chr1:208030703