Mutation details:

Protein level identifier (NP_001073136):

whole gene deletion

cDNA level identifier (NM_001079668):

c.(?_-99)_(*881_?)del

Gene level identifier:

g.(?_922-1)_(4753+1_?)del

Archive identifier/Other designation:

whole gene deletion

Genomic location hg(19)

not available

Gene name:

NKX2-1

Consequence:

unknown effect

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

10 heterozygous (10 in total).