Mutation details:

Protein level identifier (NP_001073136):

p.Ile185Serfs*126

cDNA level identifier (NM_001079668):

c.463+4A>G

Gene level identifier:

g.2169A>G

Archive identifier/Other designation:

p.Ile155SerfsX126

Reference, alternative allele:

T, C

Genomic location hg(19)

14:36988186 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

frameshift

Pathogenicity scoring:

Definitely pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).