Mutation details:

Protein level identifier (NP_001073136):

p.Lys211*

cDNA level identifier (NM_001079668):

c.631A>T

Gene level identifier:

g.3297A>T

Archive identifier/Other designation:

c.727A>T

Reference, alternative allele:

T, A

Genomic location hg(19)

14:36987058 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

nonsense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

38

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).