Mutation details:

cDNA level identifier (NM_001079668):

c.464-9C>A

Gene level identifier:

g.3121C>A

Archive identifier/Other designation:

p.Ile155Thrext*257

Reference, alternative allele:

G, T

Genomic location hg(19)

14:36987234 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous (4 in total).