Protein level identifier (NP_001035):

p.Gly386Arg

cDNA level identifier (NM_001044):

c.1156G>A

Gene level identifier:

g.30740G>A

Archive identifier/Other designation:

p.G386R

Reference, alternative allele:

C, T

Genomic location hg(19)

5:1414806 (not available on ExAC)

Gene name:

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

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