Mutation details:

Protein level identifier (NP_001073136):

p.Gly268Argext*170

cDNA level identifier (NM_001079668):

c.802_803delGG

Gene level identifier:

g.3468_3469delGG

Archive identifier/Other designation:

p.Gly238ArgfsX170

Reference, alternative allele:

GCC, G

Genomic location hg(19)

14:36986885 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).