Table 8.

Cardiofaciocutaneous (CFC) Syndrome: Notable Pathogenic Variants by Gene

Gene 1Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
BRAF NM_004333​.6
NP_004324​.2 		c.770A>Gp.Gln257ArgMost common pathogenic variant in persons w/CFC syndrome [Niihori et al 2006, Rodriguez-Viciana et al 2006]
MAP2K1 NM_002755​.4
NP_002746​.1 		c.389A>Gp.Tyr130CysMost common pathogenic variant [Rodriguez-Viciana & Rauen 2008]
MAP2K2 NM_030662​.4
NP_109587​.1 		401A>Gp.Tyr134CysMost common pathogenic variant [Rodriguez-Viciana & Rauen 2008]

Variants listed in the table have been provided by the author. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Genes from Table 1 are in alphabetic order.

From: Cardiofaciocutaneous Syndrome

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