Mutation details:

Protein level identifier (NP_001073136):

p.Gln202His

cDNA level identifier (NM_001079668):

c.606G>T

Gene level identifier:

g.3272G>T

Archive identifier/Other designation:

c.516G>T; p.Gln172His

Reference, alternative allele:

C, A

Genomic location hg(19)

14:36987083 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).