Mutation details:

Protein level identifier (NP_001073136):

p.Ala306Argext*132

cDNA level identifier (NM_001079668):

c.915dupC

Gene level identifier:

g.3581dupC

Archive identifier/Other designation:

p.Ala303Argfs*132

Reference, alternative allele:

C, CG

Genomic location hg(19)

14:36986772 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

28

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).