Mutation details:

Protein level identifier (NP_001073136):

p.Gln84*

cDNA level identifier (NM_001079668):

c.253C>T

Gene level identifier:

g.1955C>T

Archive identifier/Other designation:

p.Gln55X

Reference, alternative allele:

G, A

Genomic location hg(19)

14:36988400 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

38

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).