Mutation details:

Protein level identifier (NP_001073136):

p.Trp143Cysfs*23

cDNA level identifier (NM_001079668):

c.429delG

Gene level identifier:

g.2131delG

Archive identifier/Other designation:

p.Trp113CysfsX16

Reference, alternative allele:

AC, A

Genomic location hg(19)

14:36988223 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

frameshift

Pathogenicity scoring:

Definitely pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).