Protein level identifier (NP_000152):

p.Val205Gly

cDNA level identifier (NM_000161):

c.614T> G

Gene level identifier:

g.57073T>G

Reference, alternative allele:

A, C

Genomic location hg(0)

14:55312498 (not available on ExAC)

Gene name:

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous, 1 compound heterozygous (4 in total).