Mutation details:

Protein level identifier (NP_001073136):

p.Trp143*

cDNA level identifier (NM_001079668):

c.428G>A

Gene level identifier:

g.2130G>A

Archive identifier/Other designation:

p.Trp113X

Reference, alternative allele:

C, T

Genomic location hg(19)

14:36988225 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

40

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).