Protein level identifier (n.a.):

p.Gly484_Thr486del

cDNA level identifier (n.a.):

c.1450_1458delGGTGCAACT

Gene level identifier:

g.73535_73543delGGTGCAACT

Reference, alternative allele:

GGGTGCAACT, G

Genomic location

not available

Gene name:

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous, 1 compound heterozygous (2 in total).