Mutation details:

Protein level identifier (NP_001073136):

p.Gln107*

cDNA level identifier (NM_001079668):

c.319C>T

Gene level identifier:

g.2021C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

14:36988334 (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:

5 heterozygous (5 in total).