Mutation details:

Protein level identifier (NP_001073136):

p.Leu206Val

cDNA level identifier (NM_001079668):

c.616C>G

Gene level identifier:

g.3282C>G

Archive identifier/Other designation:

c.526C>G

Reference, alternative allele:

G, C

Genomic location hg(19)

14:36987073 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

26

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).