Mutation details:

Protein level identifier (NP_001073136):

p.Arg243Ser

cDNA level identifier (NM_001079668):

c.727C>A

Gene level identifier:

g.3393C>A

Reference, alternative allele:

G, T

Genomic location hg(19)

14:36986962 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

30

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

8 heterozygous (8 in total).