Mutation details:

Protein level identifier (NP_001073136):

p.Leu293Glyext*147

cDNA level identifier (NM_001079668):

c.876_877delCC

Gene level identifier:

g.3542_3543delCC

Archive identifier/Other designation:

c.786_787del

Reference, alternative allele:

AGG, A

Genomic location hg(19)

14:36986811 (not available on ExAC)

Gene name:

NKX2-1

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).

×