Mutation details:

Protein level identifier (NP_001073136):

p.Ser217*

cDNA level identifier (NM_001079668):

c.650C>A

Gene level identifier:

g.3316C>A

Reference, alternative allele:

G, T

Genomic location hg(19)

14:36987039 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

38

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).