Mutation details:

Protein level identifier (n.a.):

p.Gln165Glu

cDNA level identifier (n.a.):

c.493C>G

Gene level identifier:

g.11775C>G

Reference, alternative allele:

G, C

Genomic location hg(0)

3:148928068 (not available on ExAC)

Gene name:

CP

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

16

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).

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