Mutation details:

Protein level identifier (NP_001073136):

p.Ser199*

cDNA level identifier (NM_001079668):

c.596C>A

Gene level identifier:

g.3262C>A

Archive identifier/Other designation:

C2519A

Reference, alternative allele:

G, T

Genomic location hg(19)

14:36987093 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

38

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).