Mutation details:

Protein level identifier (NP_001073136):

whole gene deletion

cDNA level identifier (NM_001079668):

c.-99-493053_*881+834273del

Gene level identifier:

g.1-493053_4753+834273del

Archive identifier/Other designation:

whole gene deletion

Reference, alternative allele:

T+1332078 bp, A

Genomic location hg(19)

14:36151328 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

unknown effect

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).