Protein level identifier (NP_000152):

p.Lys224Arg

cDNA level identifier (NM_000161):

c.671A>G

Gene level identifier:

g.58754A>G

Archive identifier/Other designation:

p.K224R

Reference, alternative allele:

T, C

Genomic location hg(0)

14:55310817 (not available on ExAC)

Gene name:

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

7 heterozygous, 3 compound heterozygous (10 in total).