Mutation details:

Protein level identifier (NP_001073136):

p.Arg195Glyfs*33

cDNA level identifier (NM_001079668):

c.583delC

Gene level identifier:

g.3249delC

Archive identifier/Other designation:

p.Arg165Glyfs*32

Reference, alternative allele:

CG, C

Genomic location hg(19)

14:36987105 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

26

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

5 heterozygous (5 in total).