Mutation details:

Protein level identifier (NP_001073136):

p.Cys117*

cDNA level identifier (NM_001079668):

c.351C>A

Gene level identifier:

g.2053C>A

Archive identifier/Other designation:

p.Cys87X

Reference, alternative allele:

G, T

Genomic location hg(19)

14:36988302 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

37

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).