Mutation details:

Protein level identifier (NP_001073136):

p.Tyr116*

cDNA level identifier (NM_001079668):

c.347dupA

Gene level identifier:

g.2049dupA

Reference, alternative allele:

G, GT

Genomic location hg(19)

14:36988304 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).