Mutation details:

Protein level identifier (NP_001073136):

p.Leu165Glyfs*3

cDNA level identifier (NM_001079668):

c.675_676insGG

Gene level identifier:

g.3341_3342insGG

Archive identifier/Other designation:

p.Leu195GlyfsX3

Reference, alternative allele:

A, ACC

Genomic location hg(19)

14:36987012 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

frameshift

Pathogenicity scoring:

Definitely pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).