Mutation details:

Protein level identifier (NP_001073136):

p.Ala225Glyfs*4

cDNA level identifier (NM_001079668):

c.672_673dup

Gene level identifier:

g.3338_3339dup

Archive identifier/Other designation:

2595insGG

Reference, alternative allele:

G, GCC

Genomic location hg(19)

14:36987015 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

frameshift

Pathogenicity scoring:

Definitely pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).