Mutation details:

Protein level identifier (NP_001073136):

p.Met59Alafs*40

cDNA level identifier (NM_001079668):

c.174_180delCATGGAG

Gene level identifier:

g.1876_1882delCATGGAG

Archive identifier/Other designation:

p.Met29Alafs*40

Reference, alternative allele:

CCTCCATG, C

Genomic location hg(19)

14:36988472 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

frameshift

Pathogenicity scoring:

Definitely pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).

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