Mutation details:

Protein level identifier (NP_001073136):

p.Ala82Argext*351

cDNA level identifier (NM_001079668):

c.243_256delGGCCATGCAGCAGC

Gene level identifier:

g.1945_1958delGGCCATGCAGCAGC

Archive identifier/Other designation:

c.153_166del; p.A52Rfs*351

Reference, alternative allele:

TGCTGCTGCATGGCC, T

Genomic location hg(19)

14:36988396 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

unknown effect

Pathogenicity scoring:

Definitely pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).