Mutation details:

Protein level identifier (NP_001073136):

p.Cys117*

cDNA level identifier (NM_001079668):

c.351C>A

Gene level identifier:

g.2063C>A

Archive identifier/Other designation:

C1320A

Reference, alternative allele:

G, T

Genomic location hg(19)

14:36988302 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

37

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).