Protein level identifier (NP_060676):

p.Asp620Asn

cDNA level identifier (NM_018206):

c.1858G>A

Gene level identifier:

g.27067G>A

Reference, alternative allele:

C, T

Genomic location hg(19)

16:46696364 (not available on ExAC)

Gene name:

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

Phosphorylation activity:

Positive functional evidence:

Number of all included cases:

49 heterozygous, 1 compound heterozygous (50 in total).