Mutation details:

Protein level identifier (NP_002599):

p.Pro122Leu

cDNA level identifier (NM_002608):

c.365C>T

Gene level identifier:

g.13039C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

22:39627718 (not available on ExAC)

Gene name:

PDGFB

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

26599395;

Number of all included cases:

3 heterozygous (3 in total).