Mutation details:

Protein level identifier (NP_001073136):

deletion of promotor and exon 1

cDNA level identifier (NM_001079668):

c.-99-765345_77+106del

Gene level identifier:

g.1-765345_1674del

Archive identifier/Other designation:

whole gene deletion

Reference, alternative allele:

C+767014 bp, T

Genomic location hg(19)

14:36988680 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).