Mutation details:

Protein level identifier (n.a.):

p.Gly650Arg

cDNA level identifier (n.a.):

c.1948G>A

Gene level identifier:

g.35407G>A

Reference, alternative allele:

C, T

Genomic location hg(0)

3:148904436 (not available on ExAC)

Gene name:

CP

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

32

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

6 homozygous (6 in total).