Mutation details:

Protein level identifier (NP_001073136):

p.Glu205*

cDNA level identifier (NM_001079668):

c.613G>T

Gene level identifier:

g.3279G>T

Archive identifier/Other designation:

c.523G>T; p.E175X

Reference, alternative allele:

C, A

Genomic location hg(19)

14:36987076 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

39

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous (4 in total).