Mutation details:

Protein level identifier (NP_001073136):

p.Ser163Argfs*3

cDNA level identifier (NM_001079668):

c.489delC

Gene level identifier:

g.3155delC

Archive identifier/Other designation:

c.399delC

Reference, alternative allele:

CG, C

Genomic location hg(19)

14:36987199 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

32

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).