Mutation details:

cDNA level identifier (NM_001079668):

c.463+1G>A

Gene level identifier:

g.2166G>A

Reference, alternative allele:

C, T

Genomic location hg(19)

14:36988189 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

splice site

Pathogenicity scoring:

Definitely pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).