Mutation details:

Protein level identifier (NP_001073136):

p.Gln319Profs*58

cDNA level identifier (NM_001079668):

c.956_973delinsCTACA

Gene level identifier:

g.3622_3639delinsCTACA

Archive identifier/Other designation:

p.Gln289ProfsX59

Reference, alternative allele:

TGCGCCTGGTGCTGCGCCT, TTGTAG

Genomic location hg(19)

14:36986715 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

frameshift

Pathogenicity scoring:

Definitely pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).