Mutation details:

cDNA level identifier (NM_001079668):

c.464-2A>G

Gene level identifier:

g.3128A>G

Archive identifier/Other designation:

c.376-2A>G

Reference, alternative allele:

T, C

Genomic location hg(19)

14:36987227 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

splice site

Pathogenicity scoring:

Definitely pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).