Mutation details:

Protein level identifier (NP_002599):

p.*242Tyrext*89

cDNA level identifier (NM_002608):

c.726G>C

Gene level identifier:

g.19029G>C

Reference, alternative allele:

C, G

Genomic location hg(19)

22:39621728 (not available on ExAC)

Gene name:

PDGFB

Consequence:

in frame indel

Pathogenicity scoring:

Possibly pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

26599395;

Number of all included cases:

3 heterozygous (3 in total).