Mutation details:

Protein level identifier (NP_001073136):

p.Tyr215Asp

cDNA level identifier (NM_001079668):

c.643T>G

Gene level identifier:

g.3309T>G

Archive identifier/Other designation:

c.553T>G

Reference, alternative allele:

A, C

Genomic location hg(19)

14:36987046 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

29

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).