Protein level identifier (n.a.):

p.Lys211Asn

cDNA level identifier (n.a.):

c.633A>T

Gene level identifier:

g.754369A>T

Archive identifier/Other designation:

c.734A>T

Reference, alternative allele:

T, A

Genomic location hg(19)

Gene name:

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous, 12 compound heterozygous (13 in total).