CHD7

Gene name: chromodomain helicase DNA binding protein 7
OMIM ID: 608892
Chromosome location: 8q12.2

Mutations

Disease/Phenotype	CHARGE syndrome
DNA Change	184 kb microdeletion
A.A. Change
Exon/Intron	exon 1
Mutation Type	deletion
Reference	Pisaneschi E, Sirleto P, Lepri FR, Genovese S, Dentici ML, Petrocchi S, Angioni A, Digilio MC, Dallapiccola B. CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon. BMC Med Genet. 2015 Sep 3;16:78. doi: 10.1186/s12881-015-0225-7.

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  Variant not named according to HGVS recommendations