Mutation details:

Protein level identifier (NP_001073136):

p.Asn147Profs*20

cDNA level identifier (NM_001079668):

c.436_437dupGC

Gene level identifier:

g.2138_2139dupGC

Archive identifier/Other designation:

N147Pfs*20

Reference, alternative allele:

G, GGC

Genomic location hg(19)

14:36988214 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).