The UMD-FBN1 mutations database
Mutations associated with phenotype: L-Tracheobronchomalacia

    Request ID: 4-6

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
	c.IVS31-2A>G (c.3965-2A>G)	31-32	1322	cb EGF-like #18	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 493 FRA01BOU F0185 I0224 Male Heterozygous U.S.A. NA 137