Mutation details:

cDNA level identifier (NM_001079668):

c.464-2A>C

Gene level identifier:

g.3128A>C

Archive identifier/Other designation:

IVS2-2A>C

Reference, alternative allele:

T, G

Genomic location hg(19)

14:36987227 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).