Mutation details:

Protein level identifier (NP_001073136):

p.Trp238Ser

cDNA level identifier (NM_001079668):

c.713G>C

Gene level identifier:

g.3379G>C

Archive identifier/Other designation:

c.623G>C; p.Trp208Ser

Reference, alternative allele:

C, G

Genomic location hg(19)

14:36986976 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

32

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).