Mutation details:

Protein level identifier (NP_001073136):

p.Pro187Argfs*39

cDNA level identifier (NM_001079668):

c.560_569delinsGCG

Gene level identifier:

g.3226_3235delinsGCG

Reference, alternative allele:

CGGCGCGCTTG, CCGC

Genomic location hg(19)

14:36987119 (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).