Mutation details:

Protein level identifier (NP_001073136):

p.Ser175*

cDNA level identifier (NM_001079668):

c.524C>A

Gene level identifier:

g.3190C>A

Reference, alternative allele:

G, T

Genomic location hg(19)

14:36987165 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

nonsense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

37

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous (4 in total).