Mutation details:

Protein level identifier (NP_001073136):

p.Ala341Val

cDNA level identifier (NM_001079668):

c.1022C>T

Gene level identifier:

g.3688C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

14:36986667 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

15

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).

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