Mutation details:

cDNA level identifier (NM_001079668):

c.463+3_463+6delAAGT

Gene level identifier:

g.2168_2171delAAGT

Archive identifier/Other designation:

c.373+1_373+4del

Reference, alternative allele:

CACTT, C

Genomic location hg(19)

14:36988183 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).