Mutation details:

Protein level identifier (NP_001073136):

whole gene deletion

cDNA level identifier (NM_001079668):

c.-99-186309_*881+1983920del

Gene level identifier:

g.1-186309_4753+1983920del

Archive identifier/Other designation:

whole gene deletion

Reference, alternative allele:

A+2174981 bp, A

Genomic location hg(19)

14:35001681 (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 heterozygous (1 in total).