Mutation details:

Protein level identifier (NP_001073136):

p.Arg243Pro

cDNA level identifier (NM_001079668):

c.728G>C

Gene level identifier:

g.3394G>C

Archive identifier/Other designation:

c.638G>C

Reference, alternative allele:

C, G

Genomic location hg(19)

14:36986961 (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:

2 heterozygous (2 in total).