Mutation details:

Protein level identifier (NP_001073136):

whole gene deletion

cDNA level identifier (NM_001079668):

c.-99-3311438_*881+1403948

Gene level identifier:

g.1-3311438_4753+1403948del

Archive identifier/Other designation:

whole gene deletion

Reference, alternative allele:

A+4.7Mb, A

Genomic location hg(19)

14:35581653 (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).