Mutation details:

Protein level identifier (NP_001073136):

p.Arg209Pro

cDNA level identifier (NM_001079668):

c.626G>C

Gene level identifier:

g.3292G>C

Reference, alternative allele:

C, G

Genomic location hg(19)

14:36987063 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

32

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous (4 in total).