Mutation details:

Protein level identifier (NP_001073136):

p.*402Argext*63

cDNA level identifier (NM_001079668):

c.1204T>A

Gene level identifier:

g.3870T>A

Reference, alternative allele:

A, T

Genomic location hg(19)

14:36986485 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

unknown effect

Pathogenicity scoring:

Possibly pathogenic

CADD score:

22

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).