Mutation details:

Protein level identifier (NP_001073136):

p.His90Thrfs*11

cDNA level identifier (NM_001079668):

c.267delG

Gene level identifier:

g.1969delG

Archive identifier/Other designation:

c.177delG; p.H60Tfs*11

Reference, alternative allele:

GC, G

Genomic location hg(19)

14:36988385 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

frameshift

Pathogenicity scoring:

Definitely pathogenic

CADD score:

26

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).