Mutation details:

Protein level identifier (NP_001073136):

p.Trp173Cysfs*138

cDNA level identifier (NM_001079668):

c.463+5G>C

Gene level identifier:

g.2168G>C

Archive identifier/Other designation:

p.Trp143CysfsX138

Reference, alternative allele:

C, G

Genomic location hg(19)

14:36988185 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).