Mutation details:

Protein level identifier (NP_001073136):

p.Leu224Arg

cDNA level identifier (NM_001079668):

c.671T>G

Gene level identifier:

g.3337T>G

Reference, alternative allele:

A, C

Genomic location hg(19)

14:36987018 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

29

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

16 heterozygous (16 in total).