Mutation details:

Protein level identifier (NP_002599):

p.*242Glnext*89

cDNA level identifier (NM_002608):

c.724T>C

Gene level identifier:

g.19027T>C

Reference, alternative allele:

A, G

Genomic location hg(19)

22:39621730 (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:

1 heterozygous (1 in total).