Mutation details:

Protein level identifier (NP_001073136):

p.Tyr98*

cDNA level identifier (NM_001079668):

c.294C>G

Gene level identifier:

g.1996C>G

Archive identifier/Other designation:

p.Tyr68X

Reference, alternative allele:

G, C

Genomic location hg(19)

14:36988359 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

nonsense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

37

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).