Mutation details:

Protein level identifier (NP_001073136):

p.Pro232Leu

cDNA level identifier (NM_001079668):

c.695C>T

Gene level identifier:

g.3361C>T

Archive identifier/Other designation:

P202L

Reference, alternative allele:

G, A

Genomic location hg(19)

14:36986994 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).