Mutation details:

Protein level identifier (NP_001073136):

p.Asp296Argext*142

cDNA level identifier (NM_001079668):

c.886_887delGA

Gene level identifier:

g.3552_3553delGA

Archive identifier/Other designation:

p.Asp266Argfs142X

Reference, alternative allele:

GTC, G

Genomic location hg(19)

14:36986801 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

unknown effect

Pathogenicity scoring:

Definitely pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).