Mutation details:

Protein level identifier (NP_001073136):

p.Gln212*

cDNA level identifier (NM_001079668):

c.634C>T

Gene level identifier:

g.3300C>T

Archive identifier/Other designation:

Q212*

Reference, alternative allele:

G, A

Genomic location hg(19)

14:36987055 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

nonsense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

39

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).