Mutation details:

Protein level identifier (NP_001073136):

p.Met83Hisext*355

cDNA level identifier (NM_001079668):

c.246dupC

Gene level identifier:

g.1948dupC

Archive identifier/Other designation:

p.Met53HisfsX355

Reference, alternative allele:

T, TG

Genomic location hg(19)

14:36988405 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

unknown effect

Pathogenicity scoring:

Definitely pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).