Mutation details:

Protein level identifier (NP_001073136):

p.Thr233Arg

cDNA level identifier (NM_001079668):

c.698C>G

Gene level identifier:

g.3364C>G

Archive identifier/Other designation:

p.Thr203Arg

Reference, alternative allele:

G, C

Genomic location hg(19)

14:36986991 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

27

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).