Mutation details:

Protein level identifier (NP_001073136):

p.Gln240Pro

cDNA level identifier (NM_001079668):

c.719A>C

Gene level identifier:

g.3385A>C

Archive identifier/Other designation:

c.629A>C

Reference, alternative allele:

T, G

Genomic location hg(19)

14:36986970 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).