Mutation details:

Protein level identifier (NP_001073136):

whole gene deletion

cDNA level identifier (NM_001079668):

c.-99-2166155_*881+171496del

Gene level identifier:

g.1-2166155_4753+171496del

Archive identifier/Other designation:

whole gene deletion

Reference, alternative allele:

T+2342403 bp, T

Genomic location hg(19)

14:36814105 (not available on ExAC)

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:

1 n.a. (1 in total).