Mutation details:

Protein level identifier (NP_001073136):

p.Val105Glyext*332

cDNA level identifier (NM_001079668):

c.313dupG

Gene level identifier:

g.2015dupG

Reference, alternative allele:

A, AC

Genomic location hg(19)

14:36988338 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

unknown effect

Pathogenicity scoring:

Definitely pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).